Combination Instance
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/combinations/OLI1188/?format=api
{ "data": { "type": "Combination", "id": "OLI1188", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 2 }, "omim_id": [ "OMIM607136" ], "oligogenic_effect": "Unknown", "status": null, "effect_predicted": false, "ethnicity": "European/Caucasian" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "98759" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1188/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1188/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2544" }, { "type": "CopyNumberVariant", "id": "2543" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1188/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1188/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "922" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1188/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1188/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1188/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1188/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "857" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1188/?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) 2024 · 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": "2022-08-04T14:15:46.016587", "status": "CU", "curator": null, "submitter": "cnachteg" } }