Gene List
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/genecombinations/423/genes/?format=api
{ "data": [ { "type": "Gene", "id": "BBS1", "attributes": { "go_molecular_function": [ "['protein binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'smoothened binding', 'patched binding']" ], "pathway_id": [ "R-HSA-1852241", "R-HSA-5617833", "R-HSA-5620920", "R-HSA-5620922" ], "essential_gene": "Essential", "status": "CU", "uniprot_acc": "Q8NFJ9", "ensembl_id": "None", "entrez_id": "ENSG00000174483", "chromosome_number": "11", "lastmodified": "2021-10-18T11:00:44.590671" }, "relationships": { "variant_set": { "meta": { "count": 32 }, "data": [ { "type": "SmallVariant", "id": "129" }, { "type": "SmallVariant", "id": "181" }, { "type": "CopyNumberVariant", "id": "1358" }, { "type": "CopyNumberVariant", "id": "1359" }, { "type": "CopyNumberVariant", "id": "1360" }, { "type": "SmallVariant", "id": "2416" }, { "type": "SmallVariant", "id": "79" }, { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "82" }, { "type": "SmallVariant", "id": "121" }, { "type": "SmallVariant", "id": "124" }, { "type": "SmallVariant", "id": "159" }, { "type": "SmallVariant", "id": "163" }, { "type": "SmallVariant", "id": "183" }, { "type": "SmallVariant", "id": "288" }, { "type": "SmallVariant", "id": "300" }, { "type": "SmallVariant", "id": "628" }, { "type": "SmallVariant", "id": "629" }, { "type": "SmallVariant", "id": "630" }, { "type": "SmallVariant", "id": "2409" }, { "type": "SmallVariant", "id": "2410" }, { "type": "SmallVariant", "id": "2411" }, { "type": "SmallVariant", "id": "2412" }, { "type": "SmallVariant", "id": "2420" }, { "type": "SmallVariant", "id": "2467" }, { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3023" }, { "type": "SmallVariant", "id": "3024" }, { "type": "SmallVariant", "id": "3025" }, { "type": "SmallVariant", "id": "3026" }, { "type": "SmallVariant", "id": "3033" }, { "type": "SmallVariant", "id": "3502" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 20 }, "data": [ { "type": "GeneCombination", "id": "32" }, { "type": "GeneCombination", "id": "44" }, { "type": "GeneCombination", "id": "46" }, { "type": "GeneCombination", "id": "57" }, { "type": "GeneCombination", "id": "58" }, { "type": "GeneCombination", "id": "64" }, { "type": "GeneCombination", "id": "104" }, { "type": "GeneCombination", "id": "105" }, { "type": "GeneCombination", "id": "213" }, { "type": "GeneCombination", "id": "423" }, { "type": "GeneCombination", "id": "1010" }, { "type": "GeneCombination", "id": "1011" }, { "type": "GeneCombination", "id": "45" }, { "type": "GeneCombination", "id": "1014" }, { "type": "GeneCombination", "id": "1013" }, { "type": "GeneCombination", "id": "1180" }, { "type": "GeneCombination", "id": "1012" }, { "type": "GeneCombination", "id": "424" }, { "type": "GeneCombination", "id": "43" }, { "type": "GeneCombination", "id": "834" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } }, { "type": "Gene", "id": "BBS4", "attributes": { "go_molecular_function": [ "alpha-tubulin binding", "dynactin binding", "protein binding", "protein-macromolecule adaptor activity", "beta-tubulin binding", "RNA polymerase II-specific DNA-binding transcription factor binding" ], "pathway_id": [ "R-HSA-5617833", "R-HSA-1852241", "R-HSA-5620922", "R-HSA-5620920" ], "essential_gene": "Essential", "status": "CU", "uniprot_acc": "Q96RK4", "ensembl_id": "ENSG00000140463", "entrez_id": "585", "chromosome_number": "15", "lastmodified": "2021-10-18T11:00:44.779872" }, "relationships": { "variant_set": { "meta": { "count": 16 }, "data": [ { "type": "CopyNumberVariant", "id": "1350" }, { "type": "CopyNumberVariant", "id": "1351" }, { "type": "SmallVariant", "id": "2439" }, { "type": "SmallVariant", "id": "123" }, { "type": "SmallVariant", "id": "166" }, { "type": "SmallVariant", "id": "175" }, { "type": "SmallVariant", "id": "200" }, { "type": "SmallVariant", "id": "256" }, { "type": "SmallVariant", "id": "258" }, { "type": "SmallVariant", "id": "632" }, { "type": "SmallVariant", "id": "633" }, { "type": "SmallVariant", "id": "1355" }, { "type": "SmallVariant", "id": "2413" }, { "type": "SmallVariant", "id": "2419" }, { "type": "SmallVariant", "id": "2421" }, { "type": "SmallVariant", "id": "2434" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS4/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS4/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 13 }, "data": [ { "type": "GeneCombination", "id": "44" }, { "type": "GeneCombination", "id": "59" }, { "type": "GeneCombination", "id": "62" }, { "type": "GeneCombination", "id": "72" }, { "type": "GeneCombination", "id": "94" }, { "type": "GeneCombination", "id": "214" }, { "type": "GeneCombination", "id": "420" }, { "type": "GeneCombination", "id": "421" }, { "type": "GeneCombination", "id": "423" }, { "type": "GeneCombination", "id": "425" }, { "type": "GeneCombination", "id": "605" }, { "type": "GeneCombination", "id": "821" }, { "type": "GeneCombination", "id": "834" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS4/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS4/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/BBS4/?format=api" } }, { "type": "Gene", "id": "BBS5", "attributes": { "go_molecular_function": [ "['RNA polymerase II-specific DNA-binding transcription factor binding', 'phosphatidylinositol-3-phosphate binding', 'protein binding']" ], "pathway_id": [ "R-HSA-1852241", "R-HSA-5617833", "R-HSA-5620920", "R-HSA-5620922" ], "essential_gene": null, "status": "CU", "uniprot_acc": "Q8N3I7", "ensembl_id": "None", "entrez_id": "ENSG00000163093", "chromosome_number": "2", "lastmodified": "2021-10-18T11:00:44.408821" }, "relationships": { "variant_set": { "meta": { "count": 7 }, "data": [ { "type": "CopyNumberVariant", "id": "1364" }, { "type": "SmallVariant", "id": "169" }, { "type": "SmallVariant", "id": "1356" }, { "type": "SmallVariant", "id": "2426" }, { "type": "SmallVariant", "id": "2441" }, { "type": "SmallVariant", "id": "3027" }, { "type": "SmallVariant", "id": "3497" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS5/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS5/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 6 }, "data": [ { "type": "GeneCombination", "id": "60" }, { "type": "GeneCombination", "id": "423" }, { "type": "GeneCombination", "id": "424" }, { "type": "GeneCombination", "id": "822" }, { "type": "GeneCombination", "id": "1017" }, { "type": "GeneCombination", "id": "1177" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS5/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS5/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/BBS5/?format=api" } }, { "type": "Gene", "id": "BBS7", "attributes": { "go_molecular_function": [ "['RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding']" ], "pathway_id": [ "R-HSA-1852241", "R-HSA-5617833", "R-HSA-5620920", "R-HSA-5620922" ], "essential_gene": null, "status": "CU", "uniprot_acc": "Q8IWZ6", "ensembl_id": "None", "entrez_id": "ENSG00000138686", "chromosome_number": "4", "lastmodified": "2021-10-18T11:00:44.514609" }, "relationships": { "variant_set": { "meta": { "count": 16 }, "data": [ { "type": "CopyNumberVariant", "id": "1363" }, { "type": "SmallVariant", "id": "122" }, { "type": "SmallVariant", "id": "198" }, { "type": "SmallVariant", "id": "199" }, { "type": "SmallVariant", "id": "201" }, { "type": "SmallVariant", "id": "1357" }, { "type": "SmallVariant", "id": "1361" }, { "type": "SmallVariant", "id": "1365" }, { "type": "SmallVariant", "id": "2423" }, { "type": "SmallVariant", "id": "3030" }, { "type": "SmallVariant", "id": "3044" }, { "type": "SmallVariant", "id": "3045" }, { "type": "SmallVariant", "id": "3218" }, { "type": "SmallVariant", "id": "3303" }, { "type": "SmallVariant", "id": "3509" }, { "type": "SmallVariant", "id": "3511" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS7/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS7/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 12 }, "data": [ { "type": "GeneCombination", "id": "72" }, { "type": "GeneCombination", "id": "73" }, { "type": "GeneCombination", "id": "108" }, { "type": "GeneCombination", "id": "423" }, { "type": "GeneCombination", "id": "425" }, { "type": "GeneCombination", "id": "426" }, { "type": "GeneCombination", "id": "1076" }, { "type": "GeneCombination", "id": "1111" }, { "type": "GeneCombination", "id": "1182" }, { "type": "GeneCombination", "id": "1183" }, { "type": "GeneCombination", "id": "1020" }, { "type": "GeneCombination", "id": "43" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/BBS7/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/BBS7/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/BBS7/?format=api" } }, { "type": "Gene", "id": "NPHP1", "attributes": { "go_molecular_function": [ "protein binding" ], "pathway_id": [ "R-HSA-5620912", "R-HSA-5617833", "R-HSA-1852241" ], "essential_gene": "Non-essential", "status": "CU", "uniprot_acc": "O15259", "ensembl_id": "ENSG00000144061", "entrez_id": "4867", "chromosome_number": "2", "lastmodified": "2021-10-18T11:00:44.908570" }, "relationships": { "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "CopyNumberVariant", "id": "1353" }, { "type": "SmallVariant", "id": "408" }, { "type": "SmallVariant", "id": "1354" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NPHP1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NPHP1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 5 }, "data": [ { "type": "GeneCombination", "id": "138" }, { "type": "GeneCombination", "id": "422" }, { "type": "GeneCombination", "id": "423" }, { "type": "GeneCombination", "id": "426" }, { "type": "GeneCombination", "id": "427" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NPHP1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NPHP1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/NPHP1/?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" ], "size": 5 } }