Gene Instance
This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.
GET /api/genes/BLM/?format=api
{ "data": { "type": "Gene", "id": "BLM", "attributes": { "go_molecular_function": [ "protein homodimerization activity", "telomeric D-loop binding", "bubble DNA binding", "3'-5' DNA helicase activity", "helicase activity", "single-stranded DNA binding", "protein binding", "identical protein binding", "Y-form DNA binding", "forked DNA-dependent helicase activity", "p53 binding", "DNA binding", "four-way junction helicase activity", "DNA helicase activity", "ATP-dependent activity, acting on DNA", "telomeric G-quadruplex DNA binding", "DNA/DNA annealing activity", "ATP hydrolysis activity", "8-hydroxy-2'-deoxyguanosine DNA binding", "four-way junction DNA binding", "G-quadruplex DNA binding", "ATP binding", "zinc ion binding" ], "pathway_id": [ "R-HSA-174414", "R-HSA-5693538", "R-HSA-73857", "R-HSA-174417", "R-HSA-6804756", "R-HSA-157579", "R-HSA-5693579", "R-HSA-69473", "R-HSA-73894", "R-HSA-3108214", "R-HSA-392499", "R-HSA-1474165", "R-HSA-5693568", "R-HSA-212436", "R-HSA-3700989", "R-HSA-5685942", "kegg_path:hsa03440", "R-HSA-1640170", "R-HSA-2990846", "R-HSA-3108232", "R-HSA-69481", "R-HSA-73886", "R-HSA-5693607", "R-HSA-5633007", "R-HSA-5693554", "R-HSA-5693616", "R-HSA-1500620", "R-HSA-5685938", "R-HSA-5693532", "kegg_path:hsa03460", "R-HSA-74160", "R-HSA-912446", "R-HSA-180786", "R-HSA-597592", "R-HSA-69620", "R-HSA-5693537", "R-HSA-5693567" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "P54132", "ensembl_id": "ENSG00000197299", "entrez_id": "641", "chromosome_number": "15" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "2254" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BLM/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BLM/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 1 }, "data": [ { "type": "GeneCombination", "id": "760" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BLM/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BLM/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/BLM/?format=api" } }, "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "lastmodified": "2022-08-04T14:14:58.652783", "status": "CU", "curator": null, "submitter": "cnachteg" } }