"API version information" type APIVersion { "Optional version suffix (e.g., alpha, beta, rc)" suffix: String "Minor version number" y: String! "Patch version number" z: String! "Major version number" x: String! } "Significant adverse events associated with drugs sharing the same pharmacological target. This dataset is based on the FDA's Adverse Event Reporting System (FAERS) reporting post-marketing surveillance data and it's filtered to include only reports submitted by health professionals. The significance of a given target-ADR is estimated using a Likelihood Ratio Test (LRT) using all reports associated with the drugs with the same target." type AdverseEvent { "Number of reports mentioning drug and adverse event" count: Long! "Log-likelihood ratio" logLR: Float! "8 digit unique meddra identification number" meddraCode: String "Meddra term on adverse event" name: String! } "Significant adverse events associated with drugs sharing the same pharmacological target. This dataset is based on the FDA's Adverse Event Reporting System (FAERS) reporting post-marketing surveillance data and it's filtered to include only reports submitted by health professionals. The significance of a given target-ADR is estimated using a Likelihood Ratio Test (LRT) using all reports associated with the drugs with the same target." type AdverseEvents { "Significant adverse event entries" rows: [AdverseEvent!]! "Total significant adverse events" count: Long! "LLR critical value to define significance" criticalValue: Float! } "Allele frequency of the variant in different populations" type AlleleFrequency { "Frequency of the allele in the population (ranging from 0 to 1)" alleleFrequency: Float "Name of the population where the allele frequency was measured" populationName: String } "Associated disease entity" type AssociatedDisease { "Association scores computed for every datatype (e.g., Genetic associations, Somatic, Literature)" datatypeScores: [ScoredComponent!]! "Overall association score aggregated across all evidence types. A higher score indicates a stronger association between the target and the disease. Scores are normalized to a range of 0-1." score: Float! "Association scores computed for every datasource (e.g., IMPC, ChEMBL, Gene2Phenotype)" datasourceScores: [ScoredComponent!]! "Associated disease entity" disease: Disease! } "Target-disease associations computed on-the-fly using configurable datasource weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." type AssociatedDiseases { "Total number of target-disease associations matching the query filters" count: Long! "List of datasource settings with weights and propagation rules used to compute the associations" datasources: [DatasourceSettings!]! "List of associated diseases with their association scores and evidence breakdowns" rows: [AssociatedDisease!]! } "Associated target entity" type AssociatedTarget { "Association scores computed for every datatype (e.g., Genetic associations, Somatic, Literature)" datatypeScores: [ScoredComponent!]! "Overall association score aggregated across all evidence types. A higher score indicates a stronger association between the target and the disease. Scores are normalized to a range of 0-1." score: Float! "Association scores computed for every datasource (e.g., IMPC, ChEMBL, Gene2Phenotype)" datasourceScores: [ScoredComponent!]! "Associated target entity" target: Target! } "Target-disease associations computed on-the-fly using configurable datasource weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." type AssociatedTargets { "Total number of target-disease associations matching the query filters" count: Long! "List of datasource settings with weights and propagation rules used to compute the associations" datasources: [DatasourceSettings!]! "List of associated targets with their association scores and evidence breakdowns" rows: [AssociatedTarget!]! } "Container for all biological model-related attributes" type BiologicalModels { "Unique identifier for the biological model [bioregistry:mgi]" id: String "References related to the mouse model [bioregistry:pubmed]" literature: [String!] "The specific allelic composition of the mouse model" allelicComposition: String! "The genetic background strain of the mouse model" geneticBackground: String! } "List of gene expression altering biomarkers" type BiomarkerGeneExpression { "Raw gene expression annotation from the source" name: String "Gene Ontology (GO) identifiers of regulation or background expression processes [bioregistry:go]" id: GeneOntologyTerm } "Integration of biosample metadata about tissues or cell types derived from multiple ontologies including EFO, UBERON, CL, GO and others." type Biosample { "List of ancestor biosample IDs in the ontology" ancestors: [String!] "Direct parent biosample IDs in the ontology" parents: [String!] "List of synonymous names for the term" synonyms: [String!] "Name of the biosample" biosampleName: String! "Unique identifier for the biosample" biosampleId: String! "Cross-reference IDs from other ontologies" xrefs: [String!] "Description of the biosample" description: String "Direct child biosample IDs in the ontology" children: [String!] "List of descendant biosample IDs in the ontology" descendants: [String!] } "Cancer hallmarks associated with the target gene" type CancerHallmark { "Impact of the cancer hallmark on the target" impact: String "Label associated with the cancer hallmark" label: String! "Description of the cancer hallmark" description: String! "PubMed ID of the supporting literature for the cancer hallmark [bioregistry:pubmed]" pmid: Long! } "The Ensembl canonical transcript of the target gene" type CanonicalTranscript { "Genomic end position of the canonical transcript" end: Long! "Strand orientation of the canonical transcript" strand: String! "The Ensembl transcript identifier for the canonical transcript" id: String! "Chromosome location of the canonical transcript" chromosome: String! "Genomic start position of the canonical transcript" start: Long! } "Cell type where protein levels were measured" type CellType { "Level of expression for this cell type" level: Int! "Reliability of the cell type measurement" reliability: Boolean! "Cell type name" name: String! } "Chemical probes related to the target. High-quality chemical probes are small molecules that can be used to modulate and study the function of proteins." type ChemicalProbe { "Origin of the chemical probe" origin: [String!] "Indicates if the chemical probe is high quality" isHighQuality: Boolean! "Score from ProbeMiner for chemical probe quality" probeMinerScore: Float "Score indicating chemical probe activity in cells" scoreInCells: Float "Ensembl gene ID of the target for the chemical probe" targetFromSourceId: String! "URLs linking to more information about the chemical probe" urls: [ChemicalProbeUrl!]! "Score indicating chemical probe activity in organisms" scoreInOrganisms: Float "Unique identifier for the chemical probe" id: String! "Score for chemical probes related to druggability" probesDrugsScore: Float "Whether the chemical probe serves as a control" control: String "Drug ID associated with the chemical probe" drugId: String "Mechanism of action of the chemical probe" mechanismOfAction: [String!] } "URL information for chemical probe resources" type ChemicalProbeUrl { "URL providing details about the chemical probe" url: String "Nice name for the linked URL" niceName: String! } "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." type Colocalisation { "Posterior probability that both traits are associated, but with different causal variants (H3). Used in coloc method." h3: Float "Posterior probability that both traits are associated and share a causal variant (H4). Used in coloc method." h4: Float leftStudyLocusId: String! "Colocalisation posterior probability (CLPP) score estimating the probability of shared causal variants. Used in eCAVIAR method." clpp: Float "Type of the right-side study (e.g., gwas, eqtl, pqtl)" rightStudyType: String! "Method used to estimate colocalisation (e.g., coloc, eCAVIAR)" colocalisationMethod: String! rightStudyLocusId: String! "Average sign of the beta ratio between colocalised variants" betaRatioSignAverage: Float "Chromosome where the colocalisation occurs" chromosome: String! "Number of variants intersecting between two overlapping study-loci" numberColocalisingVariants: Long! "The other credible set (study-locus) in the colocalisation pair" otherStudyLocus: CredibleSet } "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." type Colocalisations { "Total number of colocalisation results matching the query filters" count: Long! "List of colocalisation results between study-loci pairs" rows: [Colocalisation!]! } "Constraint scores for the target gene from GnomAD. Indicates gene intolerance to loss-of-function mutations." type Constraint { "Observed constraint score" obs: Long "Upper rank classification for every coding gene assessed by GnomAD going from more constrained to less constrained" upperRank: Long "Expected constraint score" exp: Float "Upper bin classification going from more constrained to less constrained" upperBin: Long "Observed/Expected (OE) constraint score" oe: Float "Constraint score indicating gene intolerance" score: Float "Upper bound of the OE constraint score" oeUpper: Float "Type of constraint applied to the target" constraintType: String! "Upper bin6 classification going from more constrained to less constrained" upperBin6: Long "Lower bound of the OE constraint score" oeLower: Float } "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set (locus) as well as the fine-mapping method and derived statistics." type CredibleSet { "Mantissa value of the lead variant P-value" pValueMantissa: Float "Minimum R-squared linkage disequilibrium for variants in the credible set" purityMinR2: Float "Identifier of the credible set (StudyLocus)" studyLocusId: String! "Mean R-squared linkage disequilibrium for variants in the credible set" purityMeanR2: Float "Start and end positions of the region used for fine-mapping" region: String "Allele frequency of the lead variant from the GWAS" effectAlleleFrequencyFromSource: Float "Position of the lead variant for the credible set (GRCh38)" position: Int "Log10 Bayes factor for the entire credible set" credibleSetlog10BF: Float "[Deprecated]" subStudyDescription: String "Start position of the region that was fine-mapped for this credible set" locusStart: Int "Boolean for whether this credible set is a trans-pQTL or not" isTransQtl: Boolean "Ensembl identifier of the gene representing a specific gene whose molecular is being analysed in molQTL study" qtlGeneId: String "Chromosome which the credible set is located" chromosome: String "Sample size of the study which this credible set is derived" sampleSize: Int "Integer label for the order of credible sets from study-region" credibleSetIndex: Int "Method used for fine-mapping of credible set" finemappingMethod: String "Z-score of the lead variant from the GWAS" zScore: Float "Array of structs which denote the variants in LD with the credible set lead variant" ldSet: [LdSet!] "Quality control flags for this credible set" qualityControls: [String!] "End position of the region that was fine-mapped for this credible set" locusEnd: Int "Exponent value of the lead variant P-value" pValueExponent: Int "Standard error of the lead variant" standardError: Float "Description of how this credible set was derived in terms of data and fine-mapping method" confidence: String "Beta coefficient of the lead variant" beta: Float "Identifier of the GWAS or molQTL study in which the credible set was identified" studyId: String "The lead variant for the credible set, by posterior probability." variant: Variant "Descriptor for whether the credible set is derived from GWAS or molecular QTL." studyType: StudyTypeEnum "Predictions from Locus2gene gene assignment model." l2GPredictions( "Pagination settings with index and size" page: Pagination): L2GPredictions! "Locus information for all variants in the credible set" locus( "List of variant IDs in CHROM_POS_REF_ALT format" variantIds: [String!], "Pagination settings with index and size" page: Pagination): Loci! "GWAS-GWAS and GWAS-molQTL credible set colocalisation results. Dataset includes colocalising pairs as well as the method and statistics used to estimate the colocalisation." colocalisation( "Study types" studyTypes: [StudyTypeEnum!], "Pagination settings with index and size" page: Pagination): Colocalisations! "GWAS or molQTL study in which the credible set was identified" study: Study } "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." type CredibleSets { "Total number of credible sets matching the query filters" count: Long! "List of credible set entries with their associated statistics and fine-mapping information" rows: [CredibleSet!]! } "Data release version information" type DataVersion { "Month of the Platform data release" month: String! "Year of the Platform data release" year: String! "Iteration number of the Platform data release within the year-month period" iteration: String } "Data source information for protein coding coordinates" type Datasource { "Count of evidence from this data source" datasourceCount: Int! "Identifier of the data source" datasourceId: String! "Human-readable name of the data source" datasourceNiceName: String! } "Datasource settings configuration used to compute target-disease associations. Allows customization of weights, ontology propagation, and required evidence for each datasource when calculating association scores. Weights must be between 0 and 1, and can control ontology propagation and evidence requirements." type DatasourceSettings { "Datasource identifier" id: String! "Whether evidence from this datasource is required to compute association scores" required: Boolean! "Weight assigned to the datasource when computing association scores" weight: Float! "Whether evidence from this datasource is propagated through the ontology" propagate: Boolean! } "Input type for datasource settings configuration. Allows customization of how individual datasources contribute to target-disease association score calculations. Weights must be between 0 and 1, and can control ontology propagation and evidence requirements." input DatasourceSettingsInput { "Datasource identifier" id: String! "Weight assigned to the datasource. Should be between 0 and 1" weight: Float! "Whether evidence from this datasource is propagated through the ontology" propagate: Boolean! "Whether evidence from this datasource is required to compute association scores" required: Boolean = false } "Cross-reference information for a variant in different databases" type DbXref { "Name of the database the variant is referenced in" source: String "Identifier of the variant in the given database" id: String } "Essentiality measurements extracted from DepMap, stratified by tissue or anatomical units. Gene effects below -1 can be considered dependencies." type DepMapEssentiality { "List of CRISPR screening experiments supporting the essentiality assessment" screens: [GeneEssentialityScreen!]! "Name of the tissue from where the cells were sampled for assay" tissueName: String "Identifier of the tissue from where the cells were sampled for assay [bioregistry:uberon]" tissueId: String } "Core annotation for diseases or phenotypes. A disease or phenotype in the Platform is understood as any disease, phenotype, biological process or measurement that might have any type of causality relationship with a human target. The EMBL-EBI Experimental Factor Ontology (EFO) (slim version) is used as scaffold for the disease or phenotype entity." type Disease { "Ancestor disease nodes in the EFO ontology up to the top-level therapeutic area" ancestors: [String!]! "Synonymous disease or phenotype labels" synonyms: [DiseaseSynonyms!] "EFO terms for indirect anatomical locations (propagated)" indirectLocationIds: [String!] "Open Targets disease identifier [bioregistry:efo]" id: String! "Cross-references to external disease ontologies" dbXRefs: [String!] "Obsoleted ontology terms replaced by this term" obsoleteTerms: [String!] "Short description of the disease or phenotype" description: String "EFO terms for direct anatomical locations" directLocationIds: [String!] "Descendant disease nodes in the EFO ontology below this term" descendants: [String!]! "Preferred disease or phenotype label" name: String! "Ancestor therapeutic area nodes the disease or phenotype term belongs in the EFO ontology" therapeuticAreas: [Disease!]! "Immediate parent disease nodes in the ontology" parents: [Disease!]! "Direct child disease nodes in the ontology" children: [Disease!]! "Diseases mapped to direct anatomical locations" directLocations: [Disease!]! "Diseases mapped via indirect (propagated) anatomical locations" indirectLocations: [Disease!]! "Semantically similar diseases based on a PubMed word embedding model" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page" size: Int): [Similarity!]! "Publications that mention this disease, alone or alongside other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Whether this disease node is a top-level therapeutic area" isTherapeuticArea: Boolean! "Human Phenotype Ontology (HPO) annotations linked to this disease as clinical signs or symptoms" phenotypes( "Pagination settings with index and size" page: Pagination): DiseaseHPOs "Target\u2013disease evidence items supporting associations for this disease" evidences( "List of Ensembl IDs" ensemblIds: [String!]!, "Use the disease ontology to retrieve all its descendants and capture their associated evidence." enableIndirect: Boolean, "List of datasource ids" datasourceIds: [String!], "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Open Targets (OTAR) projects linked to this disease. Data only available in Partner Platform Preview (PPP)" otarProjects: [OtarProject!]! "Investigational or approved drugs indicated for this disease with curated mechanisms of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Target\u2013disease associations computed on the fly with configurable datasource weights and filters" associatedTargets( "List of disease or target IDs" Bs: [String!], "Use the disease ontology to retrieve all its descendants and capture their associated evidence." enableIndirect: Boolean, "List of datasource settings" datasources: [DatasourceSettingsInput!], "List of the facet IDs to filter by (using AND)" facetFilters: [String!], "Filter to apply to the ids with string prefixes" BFilter: String, "Ordering for the associations. By default is score desc" orderByScore: String, "Pagination settings with index and size" page: Pagination): AssociatedTargets! "All ancestor diseases in the ontology from this term up to the top-level therapeutic area" resolvedAncestors: [Disease!]! } "Cancer cell lines used to generate evidence" type DiseaseCellLine { "Cell type identifier in cell ontology or in cell model database" id: String "Anatomical identifier of the sampled organ/tissue" tissueId: String "Name of the tissue from which the cells were sampled" tissue: String "Name of the cell model" name: String } "Disease and phenotypes annotations" type DiseaseHPO { "List of phenotype annotations." evidence: [DiseaseHPOEvidences!]! "Phenotype entity" phenotypeHPO: HPO "Disease Entity" phenotypeEFO: Disease } "the HPO project provides a large set of phenotype annotations. Source: Phenotype.hpoa" type DiseaseHPOEvidences { "This field refers to the database and database identifier. EG. OMIM" diseaseFromSourceId: String! "This optional field can be used to qualify the annotation. Values: [True or False]" qualifierNot: Boolean! "This refers to the center or user making the annotation and the date on which the annotation was made" bioCuration: String "This field indicates the source of the information used for the annotation (phenotype.hpoa)" references: [String!]! "This field indicates the level of evidence supporting the annotation." evidenceType: String "A term-id from the HPO-sub-ontology" frequency: String "Possible source mapping: HPO or MONDO" resource: String! "Related name from the field diseaseFromSourceId" diseaseFromSource: String! "One of P (Phenotypic abnormality), I (inheritance), C (onset and clinical course). Might be null (MONDO)" aspect: String "This field contains the strings MALE or FEMALE if the annotation in question is limited to males or females." sex: String "HP terms from the Clinical modifier subontology" modifiers: [HPO!]! "A term-id from the HPO-sub-ontology below the term Age of onset." onset: [HPO!]! "HPO Entity" frequencyHPO: HPO } "Human Phenotype Ontology (HPO) annotations associated with the disease" type DiseaseHPOs { "List of phenotype annotations for the disease" rows: [DiseaseHPO!]! "Total number of phenotype annotations" count: Long! } "Synonymous disease labels grouped by relationship type" type DiseaseSynonyms { "List of synonymous disease labels for this relationship type" terms: [String!]! "Type of synonym relationship (e.g., exact, related, narrow)" relation: String! } "Core annotation for drug or clinical candidate molecules. A drug in the platform is understood as any bioactive molecule with drug-like properties included in the EMBL-EBI ChEMBL database. All ChEMBL molecules fullfilling any of the next criteria are included in the database: a) Molecules with a known indication. b) Molecules with a known mechanism of action c) ChEMBL molecules included in the DrugBank database d) Molecules that are acknowledged as chemical probes" type Drug { "List of alternative names for the drug" synonyms: [String!]! "Cross-reference information for this molecule from external databases" crossReferences: [DrugReferences!] "Year when the drug received regulatory approval" yearOfFirstApproval: Int "Highest clinical trial phase reached by the drug or clinical candidate molecule" maximumClinicalTrialPhase: Float "List of brand names for the drug" tradeNames: [String!]! "Flag indicating whether the drug has safety warnings" blackBoxWarning: Boolean! "Classification of the molecule's therapeutic category or chemical class (e.g. Antibody)" drugType: String! "Drug or clinical candidate molecule identifier" id: String! "Flag indicating whether the drug has received regulatory approval" isApproved: Boolean "Summary of the drug's clinical development" description: String "Generic name of the drug molecule" name: String! "Flag indicating whether the drug was removed from market" hasBeenWithdrawn: Boolean! "Parent molecule for derivative compounds" parentMolecule: Drug "List of molecules corresponding to derivative compounds" childMolecules: [Drug!]! "Indications for which there is a phase IV clinical trial" approvedIndications: [String!] "Warnings present on drug as identified by ChEMBL." drugWarnings: [DrugWarning!]! "Semantically similar drugs based on a PubMed word embedding model" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page" size: Int): [Similarity!]! "Return the list of publications that mention the main entity, alone or in combination with other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Mechanisms of action to produce intended pharmacological effects. Curated from scientific literature and post-marketing package inserts" mechanismsOfAction: MechanismsOfAction "Investigational and approved indications curated from clinical trial records and post-marketing package inserts" indications: Indications "Curated Clinical trial records and and post-marketing package inserts with a known mechanism of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Significant adverse events estimated from pharmacovigilance reports deposited in FAERS" adverseEvents( "Pagination settings with index and size" page: Pagination): AdverseEvents "Pharmacogenomics data linking genetic variants to responses to this drug. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual responses to this drug." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "List of molecule potential indications" linkedDiseases: LinkedDiseases "List of molecule targets based on molecule mechanism of action" linkedTargets: LinkedTargets } "Cross-reference information for a drug molecule" type DrugReferences { "Source database providing the cross-reference" source: String! "List of identifiers from the source database" ids: [String!]! } "Blackbox and withdrawn information for drugs molecules included in ChEMBL database." type DrugWarning { "List of disease identifiers associated with the warning [bioregistry:efo]" efoId: String "Year when the warning was issued" year: Int "Disease identifier categorising the type of warning [bioregistry:efo]" efoIdForWarningClass: String "List of sources supporting the warning information" references: [DrugWarningReference!] "List of disease labels associated with the warning" efoTerm: String "Internal identifier for the drug warning record" id: Long "List of molecule identifiers associated with the warning" chemblIds: [String!] "Description of the drug adverse effect" description: String "Classification of toxicity type associated with the drug" toxicityClass: String "Country where the warning was issued" country: String "Classification of action taken (drug is withdrawn or has a black box warning)" warningType: String! } "Reference information for drug warnings" type DrugWarningReference { "Source of the reference" source: String! "Reference identifier (e.g., PubMed ID)" id: String! "URL linking to the reference" url: String! } "Drug with drug identifiers" type DrugWithIdentifiers { "Drug identifier from the original data source" drugFromSource: String "Drug or clinical candidate identifier" drugId: String "Drug or clinical candidate entity" drug: Drug } "Union of core Platform entities returned by search or mappings (Target, Drug, Disease, Variant, Study)" union EntityUnionType = Target | Drug | Disease | Variant | Study "Target - disease evidence from all data sources. Every piece of evidence supporting an association between a target (gene or protein) and a disease or phenotype is reported and scored according to the confidence we have in the association. Multiple target-disease evidence from the same source can be reported in this dataset. The dataset is partitioned by data source, therefore evidence for individual sources can be retrieved separately. The dataset schema is a superset of all the schemas for all sources." type Evidence { "The identifer of the project that generated the data" projectId: String "Inheritance patterns" allelicRequirements: [String!] "Clinical features/phenotypes observed in studied individuals" cohortPhenotypes: [String!] "Name of the reaction, patway or gene set in Reactome" reactionName: String "Target name/synonym or non HGNC symbol in resource of origin" targetFromSource: String "Identifer of the evidence source" datasourceId: String! "Upper value of the confidence interval for odds ratio" oddsRatioConfidenceIntervalUpper: Float "Disease identifier from the original source" diseaseFromSourceId: String "List of pooled pathways" pathways: [Pathway!] "Warning message" warningMessage: String "List of PubMed or preprint reference identifiers" literature: [String!] "Lower value of the confidence interval" betaConfidenceIntervalLower: Float "Overview of the statistical method used to calculate the association" statisticalMethodOverview: String "The statistical method used to calculate the association" statisticalMethod: String "The applied screening library in the CRISPR/CAS9 project" crisprScreenLibrary: String "Role of a target in the genetic interaction test" interactingTargetRole: String "Target name/synonym in animal model" targetInModel: String "Genetic background of the model organism" biologicalModelGeneticBackground: String "Pathway, gene set or reaction identifier in Reactome" reactionId: String "Description of the studied cohort" cohortDescription: String "Gain or loss of function effect of the evidence on the target resulting from genetic variants, pharmacological modulation, or other perturbations" directionOnTarget: String "Sample size of study" studySampleSize: Long "Current stage of a clinical study" clinicalStatus: String "Lower value of the confidence interval for odds ratio" oddsRatioConfidenceIntervalLower: Float "Target ID in resource of origin (accepted sources include Ensembl gene ID, Uniprot ID, gene symbol), only capital letters are accepted" targetFromSourceId: String "Origin of the variant allele" alleleOrigins: [String!] "Description of the interaction between the two genes" geneInteractionType: String "Allelic composition of the model organism" biologicalModelAllelicComposition: String "Year of the publication" publicationYear: Long "The studied cell type. Preferably the cell line ontology label" cellType: String "List of biomarkers" biomarkers: biomarkers "Drug name/family in resource of origin" drugFromSource: String "Reason why a study has been stopped" studyStopReason: String "Number of cases in case-control study" studyCases: Long "Mapped Open Targets disease identifier" diseaseFromSourceMappedId: String "Cancer cell lines used to generate evidence" diseaseCellLines: [DiseaseCellLine!] "Background of the derived cell lines" cellLineBackground: String "Direction On Trait" directionOnTrait: String "Altered characteristics that influences the disease process" biomarkerName: String "Log2 fold expression change in contrast experiment" log2FoldChangeValue: Float "Descriptions of variant consequences at protein level" variantAminoacidDescriptions: [String!] "Mantissa of the p-value" pValueMantissa: Float "Assessments" assessments: [String!] "Methods to detect cancer driver genes producing significant results" significantDriverMethods: [String!] "Description of the study" studyOverview: String "Identifier of the studied cohort" cohortId: String "Reference to linked external resource (e.g. clinical trials, studies, package inserts, reports, etc.)" urls: [LabelledUri!] "Size of effect captured as odds ratio" oddsRatio: Float "Date of the release of the data in a 'YYYY-MM-DD' format" releaseDate: String "Experiment contrast" contrast: String "Identifier of the ancestry in the HANCESTRO ontology [bioregistry:hancestro]" ancestryId: String "Identifer of the disease/target evidence" id: String! "False discovery rate of the genetic interaction test" geneticInteractionFDR: Float "Number of cases in a case-control study that carry at least one allele of the qualifying variant" studyCasesWithQualifyingVariants: Long "Log 2 fold change of the cell survival" phenotypicConsequenceLogFoldChange: Float "Primary Project Hit" primaryProjectHit: Boolean "Score provided by datasource indicating strength of target-disease association" resourceScore: Float "Disease label from the original source" diseaseFromSource: String "Description of target modulation event" targetModulation: String "Open Targets data release version" releaseVersion: String "Primary Project Id" primaryProjectId: String "Last name and initials of the first author of the publication that references the evidence" publicationFirstAuthor: String "Text mining sentences extracted from literature" textMiningSentences: [EvidenceTextMiningSentence!] "Genetic origin of a population" ancestry: String "Short name of the studied cohort" cohortShortName: String "Score of the evidence reflecting the strength of the disease/target relationship" score: Float! "Samples with a given mutation tested" mutatedSamples: [EvidenceVariation!] "Phenotypes observed in genetically-modified animal models" diseaseModelAssociatedModelPhenotypes: [LabelledElement!] "Variant reference SNP cluster ID (Rsid)" variantRsId: String "Role of a target in the genetic interaction test" targetRole: String "Percentile of top differentially regulated genes (transcripts) within experiment" log2FoldChangePercentileRank: Long "Phase of the clinical trial" clinicalPhase: Float "Standard terms to define clinical significance" clinicalSignificances: [String!] "Human phenotypes equivalent to those observed in animal models" diseaseModelAssociatedHumanPhenotypes: [LabelledElement!] "Type of the evidence" datatypeId: String! "Exponent of the p-value" pValueExponent: Long "Predicted reason(s) why the study has been stopped based on studyStopReason" studyStopReasonCategories: [String!] "Assays used in the study" assays: [assays!] "Identifier of the biological model (eg. in MGI)" biologicalModelId: String "P-value of the the cell survival test" phenotypicConsequencePValue: Float "P-value of the genetic interaction test" geneticInteractionPValue: Float "Start date of study in a YYYY-MM-DD format" studyStartDate: String "Confidence qualifier on the reported evidence" confidence: String "Identifer of the interacting target" interactingTargetFromSourceId: String "List of biomarkers associated with the biological model" biomarkerList: [NameDescription!] "Description of the project that generated the data" projectDescription: String "False discovery rate of the genetic test" phenotypicConsequenceFDR: Float "Effect size of numberic traits" beta: Float "The strength of the genetic interaction. Directionality is captured as well: antagonistics < 0 < cooperative" geneticInteractionScore: Float "End of the distribution the target was picked from" statisticalTestTail: String "Identifier of the study generating the data" studyId: String "Upper value of the confidence interval" betaConfidenceIntervalUpper: Float "Identifier of the referenced biological material" biosamplesFromSource: [String!] "Target for which the disease is associated in this evidence" target: Target! "Disease for which the target is associated in this evidence" disease: Disease! "Credible set (StudyLocus) supporting this evidence" credibleSet: CredibleSet "Variant supporting the relationship between the target and the disease" variant: Variant "Drug or clinical candidate targeting the target and studied/approved for the specific disease as potential indication [bioregistry:chembl]" drug: Drug "Observed patterns of drug response" drugResponse: Disease "Sequence ontology (SO) term of the functional consequence of the variant" variantFunctionalConsequence: SequenceOntologyTerm "Sequence ontology (SO) term of the functional consequence of the variant from QTL" variantFunctionalConsequenceFromQtlId: SequenceOntologyTerm "List of PubMed Central identifiers of full text publication [bioregistry:pmc]" pubMedCentralIds: [String!] } "Evidence datasource and datatype metadata" type EvidenceSource { "Name of the evidence datasource" datasource: String! "Datatype/category of the evidence (e.g., Genetic association, Somatic, Literature)" datatype: String! } "Extracted text snippet from literature supporting a target\u2013disease statement" type EvidenceTextMiningSentence { "Start character offset of the target mention in the sentence" tStart: Long! "Sentence text supporting the association" text: String! "Start character offset of the disease mention in the sentence" dStart: Long! "Publication section where the sentence was found (e.g., abstract, results)" section: String! "End character offset of the target mention in the sentence" tEnd: Long! "End character offset of the disease mention in the sentence" dEnd: Long! } "Summary of mutation counts by functional consequence in the cohort" type EvidenceVariation { "Number of cohort samples in which the target is mutated with a specific mutation type" numberSamplesWithMutationType: Long "Number of cohort samples in which the target is mutated with a mutation of any type" numberMutatedSamples: Long "Number of cohort samples tested" numberSamplesTested: Long "Sequence ontology (SO) identifier of the functional consequence of the variant [bioregistry:so]" functionalConsequence: SequenceOntologyTerm } "Target\u2013disease evidence items with total count and pagination cursor" type Evidences { "Total number of evidence items available for the query" count: Long! "Opaque pagination cursor to request the next page of results" cursor: String "List of evidence items supporting the target\u2013disease association" rows: [Evidence!]! } "Array of structs containing expression data relevant to a particular gene and biosample combination" type Expression { "RNA expression values for the biosample and gene combination" rna: RNAExpression! "Protein expression values for the biosample and gene combination" protein: ProteinExpression! "Tissue/biosample information for the expression data" tissue: Tissue! } "CRISPR screening experiments supporting the essentiality assessment. Represents individual cell line assays from DepMap." type GeneEssentialityScreen { "Gene expression level in the corresponding cell line" expression: Float "Background mutation the tested cell line have" mutation: String "Gene effect score indicating the impact of gene knockout" geneEffect: Float "Unique identifier of the assay in DepMap" depmapId: String "Cell model passport identifier of a cell line modelling a disease" diseaseCellLineId: String "Name of the cancer cell line in which the gene essentiality was assessed" cellLineName: String "Disease associated with the cell line as reported in the source data" diseaseFromSource: String } "Gene Ontology (GO) annotations related to the target" type GeneOntology { "Source database and identifier where the ontology term was sourced from" source: String! "Evidence supporting the GO annotation" evidence: String! "Gene product associated with the GO annotation [bioregistry:uniprot]" geneProduct: String! "Type of the GO annotation: molecular function (F), biological process (P) and cellular localisation (C)" aspect: String! "Gene ontology term" term: GeneOntologyTerm! } "Gene ontology (GO) term [bioregistry:go]" type GeneOntologyTerm { "Gene ontology term identifier [bioregistry:go]" id: String! "Gene ontology term name" name: String! } "Genomic location information of the target gene" type GenomicLocation { "Chromosome on which the target is located" chromosome: String! "Genomic end position of the target gene" end: Long! "Strand orientation of the target gene" strand: Int! "Genomic start position of the target gene" start: Long! } "Human Phenotype Ontology subset of information included in the Platform." type HPO { "Open Targets hpo id" id: String! "namespace" namespace: [String!] "Phenotype description" description: String "Phenotype name" name: String! } "Attributes of the hallmark annotation" type HallmarkAttribute { "Name of the hallmark attribute" name: String! "Description of the hallmark attribute" description: String! "PubMed ID of the supporting literature for the hallmark attribute [bioregistry:pubmed]" pmid: Long } "Hallmarks related to the target gene sourced from COSMIC" type Hallmarks { "Cancer hallmarks associated with the target gene" cancerHallmarks: [CancerHallmark!]! "Attributes of the hallmark annotation" attributes: [HallmarkAttribute!]! } "Homologues of the target gene in other species according to Ensembl Compara" type Homologue { "Species name for the homologue" speciesName: String! "Percentage identity of the homologue in the query gene" targetPercentageIdentity: Float! "Indicates if the homology is high confidence according to Ensembl Compara" isHighConfidence: String "Species ID for the homologue" speciesId: String! "Percentage identity of the query gene in the homologue" queryPercentageIdentity: Float! "Type of homology relationship" homologyType: String! "Gene symbol of the homologous target" targetGeneSymbol: String! "Gene ID of the homologue" targetGeneId: String! } "Identifier with source information" type IdAndSource { "Source database or organization providing the identifier" source: String! "Identifier value" id: String! } "Reference information for drug indications" type IndicationReference { "Source of the reference" source: String! "List of reference identifiers (e.g., PubMed IDs)" ids: [String!] } "Indication information linking a drug or clinical candidate molecule to a disease" type IndicationRow { "Maximum clinical trial phase for this drug-disease indication" maxPhaseForIndication: Float! "Reference information supporting the indication" references: [IndicationReference!] "Potential indication disease entity" disease: Disease! } "Collection of indications for a drug or clinical candidate molecule" type Indications { "Total number of potential indications" count: Long! "List of approved indication identifiers" approvedIndications: [String!] "List of potential indication entries" rows: [IndicationRow!]! } "Integration of molecular interactions reporting experimental or functional interactions between molecules represented as Platform targets. This dataset contains pair-wise interactions deposited in several databases capturing: physical interactions (e.g. IntAct), directional interactions (e.g. Signor), pathway relationships (e.g. Reactome) or functional interactions (e.g. STRINGdb)." type Interaction { "Taxonomic annotation of target A" speciesA: InteractionSpecies "Number of evidence entries supporting this interaction" count: Long! "Biological role of target A in the interaction" intABiologicalRole: String! "Identifier for target A in source" intA: String! "Name of the source database reporting the interaction" sourceDatabase: String! "Identifier for target B in source" intB: String! "Taxonomic annotation of target B" speciesB: InteractionSpecies "Biological role of target B in the interaction" intBBiologicalRole: String! "Scoring or confidence value assigned to the interaction. Scores are normalized to a range of 0-1. The higher the score, the stronger the support for the interaction. In IntAct, scores are captured with the MI score." score: Float "Target (gene/protein) of the first molecule (target A) in the interaction" targetA: Target "Target (gene/protein) of the second molecule (target B) in the interaction" targetB: Target "List of evidences for this interaction" evidences: [InteractionEvidence!]! } "Evidence supporting molecular interactions between targets. Contains detailed information about how the interaction was detected, the experimental context, and supporting publications." type InteractionEvidence { "Short name of the method used to expand the interaction dataset" expansionMethodShortName: String "Detection method used to identify participant B in the interaction" participantDetectionMethodB: [InteractionEvidencePDM!] "NCBI taxon ID of the host organism" hostOrganismTaxId: Long "Unique identifier for the interaction evidence entry at the source" interactionIdentifier: String "Score indicating the confidence or strength of the interaction evidence" evidenceScore: Float "Molecular Interactions (MI) identifier for the type of interaction [bioregistry:mi]" interactionTypeMiIdentifier: String "Molecular Interactions (MI) identifier for the expansion method used [bioregistry:mi]" expansionMethodMiIdentifier: String "Source where interactor B is identified" intBSource: String! "Source where interactor A is identified" intASource: String! "Scientific name of the host organism in which the interaction was observed" hostOrganismScientificName: String "Detection method used to identify participant A in the interaction" participantDetectionMethodA: [InteractionEvidencePDM!] "Molecular Interactions (MI) identifier for the interaction detection method [bioregistry:mi]" interactionDetectionMethodMiIdentifier: String! "Short name of the method used to detect the interaction" interactionDetectionMethodShortName: String! "Short name of the interaction type" interactionTypeShortName: String "PubMed ID of the publication supporting the interaction evidence [bioregistry:pubmed]" pubmedId: String } "Detection method used to identify participants in the interaction" type InteractionEvidencePDM { "Molecular Interactions (MI) identifier for the detection method [bioregistry:mi]" miIdentifier: String "Short name of the detection method" shortName: String } "Databases providing evidence for the interaction" type InteractionResources { "Version of the source database providing interaction evidence" databaseVersion: String! "Name of the source database reporting the interaction evidence" sourceDatabase: String! } "Taxonomic annotation of the interaction participants" type InteractionSpecies { "Scientific name of the species" scientificName: String "NCBI taxon ID of the species" taxonId: Long "Short mnemonic name of the species" mnemonic: String } "Molecular interactions reported between targets, with total count and rows" type Interactions { "Total number of interaction entries available for the query" count: Long! "List of molecular interaction entries" rows: [Interaction!]! } "Regulatory enhancer/promoter regions to gene (target) predictions for a specific tissue/cell type based on the integration of experimental sources" type Interval { "Genomic end position of the regulatory region" end: Int! "Identifier of the data source providing the regulatory region to gene prediction" datasourceId: String! "Name of the biosample where the interval was identified" biosampleName: String! "Distance from the regulatory region to the transcription start site" distanceToTss: Int! "Chromosome containing the regulatory region" chromosome: String! "Scores from individual resources used in prediction" resourceScore: [ResourceScore!]! "Combined score for the enhancer/promoter region to gene prediction" score: Float! "PubMed identifier for the study providing the evidence [bioregistry:pubmed]" pmid: String! "Genomic start position of the regulatory region" start: Int! "Type of regulatory region (e.g., enhancer, promoter)" intervalType: String! "Identifier of the study providing the experimental data" studyId: String! "Predicted gene (target)" target: Target! "Cell type or tissue where the regulatory region to gene prediction was identified" biosample: Biosample } "Collection of regulatory enhancer/promoter regions to gene (target) predictions for a specific tissue/cell type based on the integration of experimental sources" type Intervals { "List of enhancer/promoter region to gene predictions" rows: [Interval!]! "Total number of enhancer/promoter region to gene predictions" count: Long! } "A key-value pair" type KeyValue { "Key or attribute name" key: String! "String representation of the value" value: String! } "An array of key-value pairs" type KeyValueArray { "List of key-value entries" items: [KeyValue!]! } "For any approved or clinical candidate drug, includes information on the target gene product and indication. It is derived from the ChEMBL target/disease evidence." type KnownDrug { "Commonly used name for the drug" prefName: String! "Classification category of the drug's biological target (e.g. Enzyme)" targetClass: [String!]! "Approved full name of the gene or gene product modulated by the drug" approvedName: String! "Clinical trial status for the drug/indication pair" status: String "Clinicaltrials.gov identifiers on entry trials" ctIds: [String!]! "Source urls for FDA or package inserts" references: [KnownDrugReference!]! "Disease label for the condition being treated" label: String! "Open Targets disease identifier" diseaseId: String! "List of web addresses that support the drug/indication pair" urls: [URL!]! "Classification of the modality of the drug (e.g. Small molecule)" drugType: String! "Approved gene symbol of the target modulated by the drug" approvedSymbol: String! "Open Targets molecule identifier" drugId: String! "Clinical development stage of the drug" phase: Float! "Open Targets target identifier" targetId: String! "Drug pharmacological action" mechanismOfAction: String! "Curated disease indication entity" disease: Disease "Drug target entity based on curated mechanism of action" target: Target "Curated drug entity" drug: Drug } "Reference information for known drug indications" type KnownDrugReference { "Source of the reference (e.g., PubMed, FDA, package inserts)" source: String! "List of URLs linking to the reference" urls: [String!]! "List of reference identifiers" ids: [String!]! } "Set of clinical precedence for drugs with investigational or approved indications targeting gene products according to their curated mechanism of action" type KnownDrugs { "Total unique known mechanism of action targets" uniqueTargets: Long! "Clinical precedence entries with known mechanism of action" rows: [KnownDrug!]! "Opaque pagination cursor to request the next page of results" cursor: String "Total number of entries" count: Long! "Total unique drug or clinical candidate molecules" uniqueDrugs: Long! "Total unique diseases or phenotypes" uniqueDiseases: Long! } "Feature used in Locus2gene model predictions" type L2GFeature { "SHAP (SHapley Additive exPlanations) value indicating the feature's contribution to the prediction" shapValue: Float! "Value of the feature" value: Float! "Name of the feature" name: String! } "Predictions from Locus2gene model integrating multiple functional genomic features to estimate the most likely causal gene for a given credible set. The dataset contains all predictions for every combination of credible set and genes in the region as well as statistics to explain the model interpretation of the predictions." type L2GPrediction { "Features used in the Locus2gene model prediction" features: [L2GFeature!] "SHAP base value for the prediction. This value is common to all predictions for a given credible set." shapBaseValue: Float! "Study-locus identifier for the credible set" studyLocusId: String! "Locus2gene prediction score for the gene assignment. Higher scores indicate a stronger association between the credible set and the gene. Scores range from 0 to 1." score: Float! "Target entity of the L2G predicted gene" target: Target } "Predictions from Locus2gene gene assignment model. The dataset contains all predictions for every combination of credible set and genes in the region as well as statistics to explain the model interpretation of the predictions." type L2GPredictions { "Study-locus identifier for the credible set" id: String! "List of Locus2gene predictions for credible set and gene combinations" rows: [L2GPrediction!]! "Total number of Locus2gene predictions" count: Long! } "Label with source information" type LabelAndSource { "Source database of the label" source: String! "Label value (e.g., synonym, symbol)" label: String! } "Identifier and human-readable label pair" type LabelledElement { "Human-readable label" label: String! "Identifier value" id: String! } "External resource link with an optional display name" type LabelledUri { "URL to the external resource" url: String! "Optional human-readable label for the URL" niceName: String } "Collection of populations referenced by the study. Used to describe the linkage disequilibrium (LD) population structure of GWAS studies." type LdPopulationStructure { "Population identifier" ldPopulation: String "Fraction of the total sample represented by the population" relativeSampleSize: Float } "Variants in linkage disequilibrium (LD) with the credible set lead variant." type LdSet { "The R-squared value for the tag variants with the credible set lead variant" r2Overall: Float "The variant ID for tag variants in LD with the credible set lead variant" tagVariantId: String } "Diseases linked via indications" type LinkedDiseases { "Total number of linked diseases" count: Int! "List of linked disease entities" rows: [Disease!]! } "Targets linked via curated mechanisms of action" type LinkedTargets { "Total number of linked targets" count: Int! "List of linked target entities" rows: [Target!]! } "Subcellular location information with source" type LocationAndSource { "Name of the subcellular compartment where the protein was found" location: String! "Source database for the subcellular location" source: String! "Subcellular location term identifier from SwissProt [bioregistry:sl]" termSL: String "Subcellular location category from SwissProt" labelSL: String } "Collection of variants within a credible set (locus)" type Loci { "Variants within the credible set and their associated statistics" rows: [Locus!] "Total number of variants in the credible set" count: Long! } "List of variants within the credible set" type Locus { "Mantissa of the P-value for this variant in the credible set" pValueMantissa: Float "Exponent of the P-value for this variant in the credible set" pValueExponent: Int "Boolean for if the variant is part of the 99% credible set" is99CredibleSet: Boolean "Log (natural) Bayes factor for the variant from fine-mapping" logBF: Float "Posterior inclusion probability for the variant within this credible set" posteriorProbability: Float "R-squared (LD) between this credible set variant and the lead variant" r2Overall: Float "Standard error of this variant in the credible set" standardError: Float "Boolean for if the variant is part of the 95% credible set" is95CredibleSet: Boolean "Beta coefficient of this variant in the credible set" beta: Float "Variant in the credible set" variant: Variant } "Mapping result for a single input term" type MappingResult { "Input term submitted for mapping" term: String! "Search hits that the term maps to, if any" hits: [SearchResult!] } "Mapping results for multiple terms with total hit count and aggregations" type MappingResults { "Total number of mapped hits across all terms" total: Long! "Facet aggregations over mapped entities and categories" aggregations: SearchResultAggs "Per-term mapping results" mappings: [MappingResult!]! } "Mechanism of action information for a drug" type MechanismOfActionRow { "Classification of how the drug interacts with its target (e.g., ACTIVATOR, INHIBITOR)" actionType: String "Reference information supporting the mechanism of action" references: [Reference!] "Name of the target molecule" targetName: String "Description of the mechanism of action" mechanismOfAction: String! "List of on-target (genes or proteins) involved in the drug or clinical candidate mechanism of action" targets: [Target!]! } "Collection of mechanisms of action for a drug molecule" type MechanismsOfAction { "Unique list of action types across all mechanisms" uniqueActionTypes: [String!]! "List of mechanism of action entries" rows: [MechanismOfActionRow!]! "Unique list of target types across all mechanisms" uniqueTargetTypes: [String!]! } "Metadata about the Open Targets Platform API including version information" type Meta { "Data release version information" dataVersion: DataVersion! "API version information" apiVersion: APIVersion! "Data release prefix" dataPrefix: String! "Flag indicating whether data release prefix is enabled" enableDataReleasePrefix: Boolean! "Open Targets product" product: String! "Name of the platform" name: String! "Platform datasets described following MLCroissant metadata format. Datasets are described in a JSONLD file containing extensive metadata including table and column descriptions, schemas, location and relationships." downloads: String } "Container for phenotype class-related attributes" type ModelPhenotypeClasses { "Descriptive label for the phenotype class" label: String! "Unique identifier for the phenotype class [bioregistry:mp]" id: String! } "Mouse phenotype information linking human targets to observed phenotypes in mouse models" type MousePhenotype { "Ensembl identifier for the target gene in the mouse model" targetInModelEnsemblId: String "MGI identifier for the target gene in the mouse model [bioregistry:mgi]" targetInModelMgiId: String! "Identifier for the specific phenotype observed in the model [bioregistry:mp]" modelPhenotypeId: String! "Human-readable label describing the observed phenotype" modelPhenotypeLabel: String! "Name of the target gene as represented in the mouse model" targetInModel: String! "Container for phenotype class-related attributes" modelPhenotypeClasses: [ModelPhenotypeClasses!]! "Container for all biological model-related attributes" biologicalModels: [BiologicalModels!]! } "Generic pair of a name and its description" type NameDescription { "Human-readable description of the element" description: String! "Name or label of the element" name: String! } "Open Targets (OTAR) project information associated with a disease. Data only available in Partner Platform Preview (PPP)" type OtarProject { "Whether the project integrates data in the Open Targets Partner Preview (PPP)" integratesInPPP: Boolean "Reference or citation for the OTAR project" reference: String! "Status of the OTAR project" status: String "Name of the OTAR project" projectName: String "OTAR project code identifier" otarCode: String! } "Pagination settings for controlling result set size and page navigation. Uses zero-based indexing to specify which page of results to retrieve." input Pagination { "Zero-based page index" index: Int! "Number of items per page" size: Int! } "Pathway metadata from Reactome pathway database." type Pathway { "Reactome pathway identifier [bioregistry:reactome]" id: String "Reactome pathway name" name: String! } "Pharmacogenomics data linking genetic variants to drug responses. Data is integrated from sources including ClinPGx." type Pharmacogenomics { "Whether the target is directly affected by the variant" isDirectTarget: Boolean! "Haplotype ID in the ClinPGx dataset" haplotypeFromSourceId: String "Classification of the drug response type (e.g., Toxicity)" pgxCategory: String "Identifier for the data provider" datasourceId: String "PubMed identifier (PMID) of the literature entry [bioregistry:pubmed]" literature: [String!] "Phenotype identifier from the source" phenotypeFromSourceId: String "Genetic variant configuration" genotype: String "Target (gene/protein) identifier as reported by the data source" targetFromSourceId: String "Strength of the scientific support for the variant/drug response" evidenceLevel: String "Annotation details about the variant effect on drug response" variantAnnotation: [VariantAnnotation!] "Variant identifier in CHROM_POS_REF_ALT notation" variantId: String "dbSNP rsID identifier for the variant" variantRsId: String "Identifier for the specific genetic variant combination (e.g., 1_1500_A_A,T)" genotypeId: String "Classification of the type of pharmacogenomic data (e.g., clinical_annotation)" datatypeId: String "Explanation of the genotype's clinical significance" genotypeAnnotationText: String "The sequence ontology identifier of the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantFunctionalConsequenceId: String "Description of the phenotype associated with the variant" phenotypeText: String "Combination of genetic variants that constitute a particular allele of a gene (e.g., CYP2C9*3)" haplotypeId: String "Identifier of the study providing the pharmacogenomic evidence" studyId: String "The sequence ontology identifier of the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantFunctionalConsequence: SequenceOntologyTerm "Target entity" target: Target "List of drugs or clinical candidates associated with the pharmacogenomic data" drugs: [DrugWithIdentifiers!]! } "Descriptions of variant consequences at protein level. Protein coding coordinates link variants to their amino acid-level consequences in protein products." type ProteinCodingCoordinate { "UniProt protein accessions for the affected protein [bioregistry:uniprot]" uniprotAccessions: [String!]! "Therapeutic areas associated with the variant-consequence relationship" therapeuticAreas: [String!]! "Position of the amino acid affected by the variant in the protein sequence" aminoAcidPosition: Int! "Reference amino acid at this position" referenceAminoAcid: String! "Data sources providing evidence for the protein coding coordinate" datasources: [Datasource!]! "Score indicating the predicted effect of the variant on the protein" variantEffect: Float "Amino acid resulting from the variant" alternateAminoAcid: String! "Disease the protein coding variant has been associated with" diseases: [Disease!]! "Target (gene/protein) the protein coding variant has been associated with" target: Target "Protein coding variant" variant: Variant "The sequence ontology term capturing the consequence of the variant based on Ensembl VEP in the context of the transcript [bioregistry:so]" variantConsequences: [SequenceOntologyTerm!]! } "Collection of protein coding coordinates linking variants to their amino acid-level consequences" type ProteinCodingCoordinates { "List of phenotype-associated protein coding variants" rows: [ProteinCodingCoordinate!]! "Total number of phenotype-associated protein coding variants" count: Long! } "Struct containing relevant protein expression values for a particular biosample and gene combination" type ProteinExpression { "Level of protein expression normalised to 0-5 or -1 if absent" level: Int! "List of cell types were protein levels were measured" cellType: [CellType!]! "Reliability of the protein expression measurement" reliability: Boolean! } "Referenced publication information" type Publication { "PubMed identifier [bioregistry:pubmed]" pmid: String! "PubMed Central identifier (if available) [bioregistry:pmc]" pmcid: String "Publication date" publicationDate: String } "List of referenced publications with total counts, earliest year and pagination cursor" type Publications { "Total number of publications matching the query" count: Long! "Number of publications after applying filters" filteredCount: Long! "Earliest publication year." earliestPubYear: Int! "Opaque pagination cursor to request the next page of results" cursor: String "List of publications" rows: [Publication!]! } "Root query type providing access to all entities and search functionality in the Open Targets Platform. Supports retrieval of targets, diseases, drugs, variants, studies, credible sets, and their associations. Includes full-text search, mapping, and filtering capabilities." type Query { "Open Targets API metadata, including version and configuration information" meta: Meta! "Retrieve a target (gene/protein) by target identifier (e.g. ENSG00000139618)" target( "Ensembl ID" ensemblId: String!): Target "Retrieve multiple targets by target identifiers" targets( "List of Ensembl IDs" ensemblIds: [String!]!): [Target!]! "Retrieve a disease or phenotype by identifier (e.g. EFO_0000400)" disease( "EFO ID" efoId: String!): Disease "Retrieve multiple diseases by disease or phenotype identifiers" diseases( "EFO ID" efoIds: [String!]!): [Disease!]! "Retrieve a drug or clinical candidate by identifier (e.g. CHEMBL112)" drug( "Chembl ID" chemblId: String!): Drug "Retrieve multiple drugs or clinical candidates by identifiers" drugs( "List of Chembl IDs" chemblIds: [String!]!): [Drug!]! "Full-text, multi-entity search across all types of entities (targets, diseases, drugs, variants or studies)" search( "Search query string" queryString: String!, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Pagination settings with index and size" page: Pagination): SearchResults! "Search sets of targets or diseases used to facet associations" facets( "Search query string" queryString: String, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Category filter" category: String, "Pagination settings with index and size" page: Pagination): SearchFacetsResults! "Map free-text terms to canonical IDs used as primary identifiers in the Platform (targets, diseases, drugs, variants or studies). For example, mapping 'diabetes' to EFO_0000400 or 'BRCA1' to ENSG00000139618" mapIds( "List of query terms to map" queryTerms: [String!]!, "List of entity names to search for (target, disease, drug,...)" entityNames: [String!]): MappingResults! "List of available evidence datasources and their datatypes" associationDatasources: [EvidenceSource!]! "List of molecular interaction resources and their versions" interactionResources: [InteractionResources!]! "Fetch Gene Ontology terms by GO identifiers" geneOntologyTerms( "List of GO IDs, eg. GO:0005515" goIds: [String!]!): [GeneOntologyTerm]! "Retrieve a variant by identifier in the format of CHROM_POS_REF_ALT for SNPs and short indels (e.g. 19_44908684_T_C)" variant( "Variant ID" variantId: String!): Variant "Retrieve a GWAS or molecular QTL study by ID (e.g. GCST004131)" study( "Study ID" studyId: String): Study "List GWAS or molecular QTL studies filtered by ID(s) and/or disease(s); supports ontology expansion" studies( "Pagination settings with index and size" page: Pagination, "Study ID" studyId: String, "Disease IDs" diseaseIds: [String!], "Use the disease ontology to retrieve all its descendants and capture all their associated studies." enableIndirect: Boolean): Studies! "Retrieve a 95% credible set (study-locus) by identifier" credibleSet( "Study-locus ID" studyLocusId: String!): CredibleSet "List credible sets filtered by study-locus IDs, study IDs, variant IDs, study types or regions" credibleSets( "Pagination settings with index and size" page: Pagination, "Study-locus IDs" studyLocusIds: [String!], "Study IDs" studyIds: [String!], "List of variant IDs in CHROM_POS_REF_ALT format" variantIds: [String!], "Study types" studyTypes: [StudyTypeEnum!], "List of genomic regions (e.g., 1:100000-200000)" regions: [String!]): CredibleSets! } "RNA expression values for a particular biosample and gene combination" type RNAExpression { "Level of RNA expression normalised to 0-5 or -1 if absent" level: Int! "Unit for the RNA expression" unit: String! "Expression zscore" zscore: Long! "Expression value" value: Float! } "Reactome pathway information for the target" type ReactomePathway { "Top-level pathway term" topLevelTerm: String! "Reactome pathway identifier" pathwayId: String! "Pathway name" pathway: String! } "Reference information supporting the drug mechanisms of action" type Reference { "Source of the reference (e.g., PubMed, FDA, package inserts)" source: String! "List of URLs linking to the reference" urls: [String!] "List of reference identifiers" ids: [String!] } "Score from a specific datasource" type ResourceScore { "Score value from the resource" value: Float! "Name of the resource providing the score" name: String! } "Biosamples used in safety assessments" type SafetyBiosample { "Cell identifier for the biosample" cellId: String "Format of the biosample cells" cellFormat: String "Tissue ID for the biosample" tissueId: String "Label of the biosample cell" cellLabel: String "Label of the biosample tissue" tissueLabel: String } "Effects reported for safety events" type SafetyEffects { "Dosing conditions related to the reported effect" dosing: String "Direction of the reported effect (e.g., increase or decrease)" direction: String! } "Safety liabilities associated with the target" type SafetyLiability { "Studies related to safety assessments" studies: [SafetyStudy!] "Literature references for the safety liability" literature: String "URL linking to more details on safety liabilities" url: String "Data source reporting the safety liability" datasource: String! "Unique identifier for the safety event" eventId: String "Biosamples used in safety assessments" biosamples: [SafetyBiosample!] "Effects reported for the safety event" effects: [SafetyEffects!] "Safety event associated with the target" event: String } "Studies related to safety assessments" type SafetyStudy { "Description of the safety study" description: String "Type of safety study" type: String "Name of the safety study" name: String } "Sample information including ancestry and sample size. Used for both discovery and replication phases of GWAS studies." type Sample { "Sample size" sampleSize: Int "Sample ancestry name" ancestry: String } "Scored component used in association scoring" type ScoredComponent { "Component identifier (e.g., datatype or datasource name)" id: String! "Association score for the component. Scores are normalized to a range of 0-1. The higher the score, the stronger the association." score: Float! } "Facet category with result count" type SearchFacetsCategory { "Number of results in this category" total: Long! "Facet category name" name: String! } "Facet search hit for a single category item" type SearchFacetsResult { "Facet category this item belongs to (e.g., target, disease)" category: String! "Highlighted text snippets showing why this facet matched the query" highlights: [String!]! "Optional list of underlying entity identifiers represented by this facet" entityIds: [String!] "Optional identifier of the datasource contributing this facet" datasourceId: String "Human-readable facet label" label: String! "Facet identifier, which can be inputted in the associations query to filter by this facet" id: String! "Relevance score of the facet hit for the current query" score: Float! } "Facet search results including hits and category counts" type SearchFacetsResults { "List of facetable hits matching the query" hits: [SearchFacetsResult!]! "Total number of facetable results for the current query" total: Long! "Facet categories with their result counts" categories: [SearchFacetsCategory!]! } "Full-text search hit describing a single entity and its relevance to the query" type SearchResult { "Highlighted text snippets showing where the query matched" highlights: [String!]! "Entity type of the hit (e.g., target, disease, drug, variant, study)" entity: String! "Score boosting multiplier applied to the hit during search ranking" multiplier: Float! "List of name prefixes used for prefix matching" prefixes: [String!] "Entity identifier (e.g., Ensembl, EFO, ChEMBL, variant or study ID)" id: String! "List of n-grams derived from the name used for fuzzy matching" ngrams: [String!] "List of categories the hit belongs to (e.g., TARGET, DISEASE, DRUG)" category: [String!]! "Relevance score returned by the search engine for this hit" score: Float! "Additional keywords associated with the entity to improve search" keywords: [String!] "Short description or summary of the entity" description: String "Primary display name for the entity" name: String! "Resolved Platform entity corresponding to this search hit" object: EntityUnionType } "Search result aggregation category with result count" type SearchResultAggCategory { "Total number of search results in this category" total: Long! "Category name (e.g., target, disease, drug)" name: String! } "Search result aggregation by entity type with category breakdown" type SearchResultAggEntity { "Total number of search results for this entity type" total: Long! "List of category aggregations within this entity type" categories: [SearchResultAggCategory!]! "Entity type name (e.g., target, disease, drug, variant, study)" name: String! } "Search result aggregations grouped by entity type" type SearchResultAggs { "List of entity type aggregations with category breakdowns" entities: [SearchResultAggEntity!]! "Total number of search results across all entities" total: Long! } "Search results including hits and facet aggregations" type SearchResults { "Facet aggregations by entity and category for the current query" aggregations: SearchResultAggs "Combined list of search hits across requested entities" hits: [SearchResult!]! "Total number of results for the current query and entity filter" total: Long! } "Sequence ontology term identifier and name" type SequenceOntologyTerm { "Sequence ontology term label (e.g. 'missense_variant')" label: String! "Sequence ontology term identifier [bioregistry:so]" id: String! } "Semantic similarity score between labels, used to suggest related entities" type Similarity { "Identifier of the similar entity (e.g., Ensembl, EFO, ChEMBL ID)" id: String! "Entity category this similarity refers to (e.g., target, disease, drug)" category: String! "Similarity score between this entity and the query label. Scores are normalised between 0 and 1; higher scores indicate more similar entities." score: Float! "Resolved Platform entity corresponding to this similar label" object: EntityUnionType } "List of GWAS and molecular QTL studies with total count" type Studies { "Total number of studies matching the query" count: Long! "List of GWAS or molecular QTL studies" rows: [Study!]! } "Metadata for all complex trait and molecular QTL GWAS studies in the Platform. The dataset includes study metadata, phenotype information, sample sizes, publication information and more. Molecular QTL studies are splitted by the affected gene, tissue or cell type and condition, potentially leading to many studies in the same publication." type Study { "Identifier of the source project collection that the study information is derived from" projectId: String "Collection of ancestries reported by the study discovery phase" discoverySamples: [Sample!] "Phenotypic trait ids that map to the analysed trait reported by study" traitFromSourceMappedIds: [String!] "Molecular or phenotypic trait, derived from source, analysed in the study" traitFromSource: String "Study initial sample size" initialSampleSize: String "The number of controls in this broad ancestry group" nControls: Int "Path to the source study summary statistics (if exists at the source)" summarystatsLocation: String "Indication whether the summary statistics exist in the source" hasSumstats: Boolean "Reported sample conditions" condition: String "Collection of flags indicating the type of the analysis conducted in the association study" analysisFlags: [String!] "Collection of populations referenced by the study" ldPopulationStructure: [LdPopulationStructure!] "Last name and initials of the author of the publication that references the study" publicationFirstAuthor: String "Control metrics refining study validation" qualityControls: [String!] "Collection of ancestries reported by the study replication phase" replicationSamples: [Sample!] "Quality control flags for the study (if any)" sumstatQCValues: [SumStatQC!] "Title of the publication that references the study" publicationTitle: String "The number of cases in this broad ancestry group" nCases: Int "Date of the publication that references study" publicationDate: String "Abbreviated journal name where the publication referencing study was published" publicationJournal: String "List of cohort(s) represented in the discovery sample" cohorts: [String!] "The number of samples tested in GWAS analysis" nSamples: Int "PubMed identifier of the publication hat references the study [bioregistry:pubmed]" pubmedId: String "The GWAS or molQTL study identifier (e.g. GCST004132)" id: String! "The study type (e.g. gwas, eqtl, pqtl, sceqtl)" studyType: StudyTypeEnum "In molQTL studies, the gene under study for changes in expression, abundance, etc." target: Target "Tissue or cell type in which the molQTL has been detected" biosample: Biosample "Phenotypic trait ids that map to the analysed trait reported by study" diseases: [Disease!] "Any background trait(s) shared by all individuals in the study" backgroundTraits: [Disease!] "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." credibleSets( "Pagination settings with index and size" page: Pagination): CredibleSets! } "Study type, distinguishing GWAS from different classes of molecular QTL studies" enum StudyTypeEnum { "Bulk tissue expression quantitative trait locus (eQTL) study" eqtl "Genome-wide association study (GWAS) of complex traits or diseases" gwas "Bulk tissue protein quantitative trait locus (pQTL) study" pqtl "Single-cell expression quantitative trait locus (sc-eQTL) study" sceqtl "Single-cell protein quantitative trait locus (sc-pQTL) study" scpqtl "Single-cell splicing quantitative trait locus (sc-sQTL) study" scsqtl "Single-cell transcript uptake quantitative trait locus (sc-tuQTL) study" sctuqtl "Bulk tissue splicing quantitative trait locus (sQTL) study" sqtl "Bulk tissue transcript uptake quantitative trait locus (tuQTL) study" tuqtl } "Quality control flags for summary statistics. Mapping of quality control metric names to their corresponding values." type SumStatQC { "Quality control metric value" QCCheckValue: Float! "Quality control metric identifier" QCCheckName: String! } "Core annotation for drug targets (gene/proteins). Targets are defined based on EMBL-EBI Ensembl database and uses the Ensembl gene ID as the primary identifier. An Ensembl gene ID is considered potential drug target if included in the canonical assembly or if present alternative assemblies but encoding for a reviewed protein product according to the UniProt database." type Target { "Target classification categories from ChEMBL" targetClass: [TargetClass!]! "List of Gene Ontology (GO) annotations related to the target" geneOntology: [GeneOntology!]! "Approved full name of the target gene" approvedName: String! "Target Enabling Package (TEP) information" tep: Tep "Pathway annotations for the target" pathways: [ReactomePathway!]! "Biotype classification of the target gene, indicating if the gene is protein coding" biotype: String! "List of symbol-based synonyms for the target gene" symbolSynonyms: [LabelAndSource!]! "Known target safety effects and target safety risk information" safetyLiabilities: [SafetyLiability!]! "Tractability information for the target" tractability: [Tractability!]! "Protein identifiers associated with the target" proteinIds: [IdAndSource!]! "Database cross-references for the target" dbXrefs: [IdAndSource!]! "List of obsolete symbols previously used for the target gene" obsoleteSymbols: [LabelAndSource!]! "Unique identifier for the target [bioregistry:ensembl]" id: String! "Hallmarks related to the target gene sourced from COSMIC" hallmarks: Hallmarks "Homologues of the target gene in other species" homologues: [Homologue!]! "Approved gene symbol of the target" approvedSymbol: String! "List of Ensembl transcript identifiers associated with the target" transcriptIds: [String!]! "Genomic location information of the target gene" genomicLocation: GenomicLocation! "Functional descriptions of the target gene sourced from UniProt" functionDescriptions: [String!]! "The Ensembl canonical transcript of the target gene" canonicalTranscript: CanonicalTranscript "List of subcellular locations where the target protein is found" subcellularLocations: [LocationAndSource!]! "List of name-based synonyms for the target gene" nameSynonyms: [LabelAndSource!]! "List of synonyms for the target gene" synonyms: [LabelAndSource!]! "Constraint scores for the target gene from GnomAD" geneticConstraint: [Constraint!]! "List of alternative Ensembl gene identifiers mapped to non-canonical chromosomes" alternativeGenes: [String!]! "Chemical probes with high selectivity and specificity for the target." chemicalProbes: [ChemicalProbe!]! "List of obsolete names previously used for the target gene" obsoleteNames: [LabelAndSource!]! "95% credible sets for GWAS and molQTL studies. Credible sets include all variants in the credible set as well as the fine-mapping method and statistics used to estimate the credible set." credibleSets( "Pagination settings with index and size" page: Pagination): CredibleSets! "Return similar labels using a model Word2CVec trained with PubMed" similarEntities( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "List of entity names to search for (target, disease, drug,...)" entityNames: [String!], "Threshold similarity between 0 and 1" threshold: Float, "Number of items per page" size: Int): [Similarity!]! "Return the list of publications that mention the main entity, alone or in combination with other entities" literatureOcurrences( "List of IDs (EFO disease IDs, Ensembl gene IDs, or ChEMBL molecule IDs)" additionalIds: [String!], "Year at the lower end of the filter" startYear: Int, "Month at the lower end of the filter. This value will be ignored if startYear is not set" startMonth: Int, "Year at the higher end of the filter" endYear: Int, "Month at the higher end of the filter. This value will be ignored if endYear is not set" endMonth: Int, "Opaque cursor for pagination" cursor: String): Publications! "Target-disease evidence from all data sources supporting associations between this target and diseases or phenotypes. Evidence entries are reported and scored according to confidence in the association." evidences( "EFO ID" efoIds: [String!]!, "List of datasource ids" datasourceIds: [String!], "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Molecular interactions reporting experimental or functional interactions between this target and other molecules. Interactions are integrated from multiple databases capturing physical interactions (e.g., IntAct), directional interactions (e.g., Signor), pathway relationships (e.g., Reactome), or functional interactions (e.g., STRINGdb)." interactions( "Threshold similarity between 0 and 1" scoreThreshold: Float, "Source database name" sourceDatabase: String, "Pagination settings with index and size" page: Pagination): Interactions "Mouse phenotype information linking this human target to observed phenotypes in mouse models. Provides data on phenotypes observed when the target gene is modified in mouse models." mousePhenotypes: [MousePhenotype!]! "Baseline RNA and protein expression data across tissues for this target. Expression data shows how targets are selectively expressed across different tissues and biosamples, combining values from multiple sources including Expression Atlas and Human Protein Atlas." expressions: [Expression!]! "Set of clinical precedence for drugs with investigational or approved indications targeting this gene product according to their curated mechanism of action" knownDrugs( "Free-text search query string" freeTextQuery: String, "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): KnownDrugs "Target-disease associations calculated on-the-fly using configurable data source weights and evidence filters. Returns associations with aggregated scores and evidence counts supporting the target-disease relationship." associatedDiseases( "List of disease or target IDs" Bs: [String!], "Utilize the target interactions to retrieve all diseases associated with them and capture their respective evidence." enableIndirect: Boolean, "List of datasource settings" datasources: [DatasourceSettingsInput!], "Whether to include measurements in the response" includeMeasurements: Boolean, "List of the facet IDs to filter by (using AND)" facetFilters: [String!], "Filter to apply to the ids with string prefixes" BFilter: String, "Ordering for the associations. By default is score desc" orderByScore: String, "Pagination settings with index and size" page: Pagination): AssociatedDiseases! "Target-specific properties used to prioritise targets for further investigation. Prioritisation factors cover several areas around clinical precedence, tractability, do-ability, and safety of the target. Values range from -1 (unfavourable/deprioritised) to 1 (favourable/prioritised)." prioritisation: KeyValueArray "Flag indicating whether this target is essential based on CRISPR screening data from cancer cell line models. Essential genes are those that show dependency when knocked out in cellular models." isEssential: Boolean "Essentiality measurements extracted from DepMap, stratified by tissue or anatomical units. Gene essentiality is assessed based on dependencies exhibited when knocking out genes in cancer cellular models using CRISPR screenings from the Cancer Dependency Map (DepMap) Project. Gene effects below -1 can be considered dependencies." depMapEssentiality: [DepMapEssentiality!] "Pharmacogenomics data linking genetic variants affecting this target to drug responses. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual drug responses when targeting this gene product." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "Protein coding coordinates linking variants affecting this target to their amino acid-level consequences in protein products. Describes variant consequences at the protein level including amino acid changes and their positions for this target." proteinCodingCoordinates( "Pagination settings with index and size" page: Pagination): ProteinCodingCoordinates! } "Target classification categories from ChEMBL" type TargetClass { "Hierarchical level of the target class" level: String! "Unique identifier for the target class" id: Long! "Label for the target class" label: String! } "Target Enabling Package (TEP) information" type Tep { "URL linking to more information on the TEP target" uri: String! "Ensembl gene ID for the TEP target" name: String! "Description of the TEP target" description: String! "Therapeutic area associated with the TEP target" therapeuticArea: String! } "Baseline RNA and protein expression data across tissues. This data does not contain raw expression values, instead to shows how targets are selectively expressed across different tissues. This dataset combines expression values from multiple sources including Expression Atlas and Human Protein Atlas." type Tissue { "UBERON id" id: String! "Name of the biosample the expression data is from" label: String! "List of anatomical systems that the biosample can be found in" anatomicalSystems: [String!]! "List of organs that the biosample can be found in" organs: [String!]! } "Tractability information for the target. Indicates the feasibility of targeting the gene/protein with different therapeutic modalities." type Tractability { "Modality of the tractability assessment" modality: String! "Tractability category label" label: String! "Tractability value assigned to the target (true indicates tractable)" value: Boolean! } "Predicted consequences of the variant on transcript context" type TranscriptConsequence { "UniProt protein accessions for the transcript [bioregistry:uniprot]" uniprotAccessions: [String!] "Distance from the variant to the transcription start site" distanceFromTss: Int! "Amino acid change caused by the variant" aminoAcidChange: String "Whether this is the canonical transcript according to Ensembl" isEnsemblCanonical: Boolean! "PolyPhen score predicting the impact of the variant on protein structure" polyphenPrediction: Float "Impact assessment of the variant (e.g., HIGH, MODERATE, LOW)" impact: String "Score indicating the severity of the consequence" consequenceScore: Float! "SIFT score predicting whether the variant affects protein function" siftPrediction: Float "Index of the transcript" transcriptIndex: Long! "Ensembl transcript identifier [bioregistry:ensembl]" transcriptId: String "Codons affected by the variant" codons: String "Loss-of-function transcript effect estimator (LOFTEE) prediction" lofteePrediction: String "Distance from the variant to the footprint region" distanceFromFootprint: Int! "The target (gene/protein) associated with the transcript" target: Target "The sequence ontology term of the consequence of the variant based on Ensembl VEP in the context of the transcript" variantConsequences: [SequenceOntologyTerm!]! } "Source URL for clinical trials, FDA and package inserts" type URL { "List of web addresses that support the drug/indication pair" url: String! "List of human readable names for the reference source" name: String! } "Core variant information for all variants in the Platform. Variants are included if any phenotypic information is available for the variant, including GWAS or molQTL credible sets, ClinVar, Uniprot or ClinPGx. The dataset includes variant metadata as well as variant effects derived from Ensembl VEP." type Variant { "HGVS identifier of the variant" hgvsId: String "The alternate allele for the variant" alternateAllele: String! "The position on the chromosome of the variant" position: Int! "The list of cross-references for the variant in different databases" dbXrefs: [DbXref!] "The chromosome on which the variant is located" chromosome: String! "The unique identifier for the variant following schema CHR_POS_REF_ALT for SNPs and short indels (e.g. 1_154453788_C_T)" id: String! "The reference allele for the variant" referenceAllele: String! "List of predicted or measured effects of the variant based on various methods" variantEffect: [VariantEffect!] "The list of rsId identifiers for the variant" rsIds: [String!] "The allele frequencies of the variant in different populations" alleleFrequencies: [AlleleFrequency!] "Predicted consequences on transcript context" transcriptConsequences: [TranscriptConsequence!] "Short summary of the variant effect" variantDescription: String! "The sequence ontology term of the most severe consequence of the variant based on Ensembl VEP" mostSevereConsequence: SequenceOntologyTerm "95% credible sets for GWAS and molQTL studies that contain this variant. Credible sets include all variants in the credible set (locus) as well as the fine-mapping method and derived statistics." credibleSets( "Pagination settings with index and size" page: Pagination, "Study types" studyTypes: [StudyTypeEnum!]): CredibleSets! "Pharmacogenomics data linking this genetic variant to drug responses. Data is integrated from sources including ClinPGx and describes how genetic variants influence individual drug responses." pharmacogenomics( "Pagination settings with index and size" page: Pagination): [Pharmacogenomics!]! "Target-disease evidence from all data sources where this variant supports the association. Evidence entries report associations between targets (genes or proteins) and diseases or phenotypes, scored according to confidence in the association." evidences( "List of datasource ids" datasourceIds: [String!], "Number of items per page" size: Int, "Opaque cursor for pagination" cursor: String): Evidences! "Protein coding coordinates linking this variant to its amino acid-level consequences in protein products. Describes variant consequences at the protein level including amino acid changes and their positions." proteinCodingCoordinates( "Pagination settings with index and size" page: Pagination): ProteinCodingCoordinates! "Regulatory enhancer/promoter regions to gene (target) predictions overlapping with this variant's location. These intervals link regulatory regions to target genes based on experimental data for specific tissues or cell types." intervals( "Pagination settings with index and size" page: Pagination): Intervals! } "Genetic variants influencing individual drug responses. Pharmacogenetics data is integrated from sources including Pharmacogenomics Knowledgebase (PharmGKB)." type VariantAnnotation { "Entity affected by the effect." entity: String "PubMed identifier (PMID) of the literature entry" literature: String "Allele or genotype in the base case." baseAlleleOrGenotype: String "Allele observed effect." effect: String "Allele or genotype in the comparison case." comparisonAlleleOrGenotype: String "Type of effect." effectType: String "Summary of the impact of the allele on the drug response." effectDescription: String "Indicates in which direction the genetic variant increases or decreases drug response" directionality: String } "Predicted or measured effect of the variant based on various methods" type VariantEffect { "Method used to predict or measure the variant effect" method: String "Normalised score for the variant effect" normalisedScore: Float "Flag indicating the reliability of the assessment" assessmentFlag: String "Assessment of the variant effect" assessment: String "Score indicating the severity or impact of the variant effect" score: Float "The target (gene/protein) on which the variant effect is interpreted" target: Target } "Assays used in the study" type assays { "Short name of the assay" shortName: String "Indicating if the assay was positive or negative for the target" isHit: Boolean "Description of the assay" description: String } "List of biomarkers associated with evidence" type biomarkers { "List of genetic variation biomarkers" geneticVariation: [geneticVariation!] "List of gene expression altering biomarkers" geneExpression: [BiomarkerGeneExpression!] } "List of genetic variation biomarkers" type geneticVariation { "Variation identifier" id: String "Name of the variant biomarker" name: String "Functional consequence identifier of the variant biomarker [bioregistry:so]" functionalConsequenceId: SequenceOntologyTerm }