Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/304/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI1248", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Ethiopian", "lastmodified": "2023-05-16T12:02:42.534386" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1248/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1248/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2642" }, { "type": "SmallVariant", "id": "2643" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1248/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1248/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "935" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1248/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1248/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1248/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1248/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "880" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1248/?format=api" } }, { "type": "Combination", "id": "OLI240", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 2, "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": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:41.438420" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI240/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI240/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "468" }, { "type": "SmallVariant", "id": "469" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI240/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI240/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "699" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI240/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI240/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI240/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI240/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "156" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI240/?format=api" } }, { "type": "Combination", "id": "OLI250", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 2, "final_metascore": 2 }, "omim_id": [], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:41.603279" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI250/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI250/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "487" }, { "type": "SmallVariant", "id": "488" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI250/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI250/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "698" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI250/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI250/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI250/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI250/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "156" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI250/?format=api" } }, { "type": "Combination", "id": "OLI414", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 2, "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": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Ashkenazi Jewish", "lastmodified": "2021-11-16T17:59:45.024085" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI414/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI414/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "888" }, { "type": "SmallVariant", "id": "889" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI414/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI414/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "747" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI414/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI414/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI414/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI414/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "156" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI414/?format=api" } }, { "type": "Combination", "id": "OLI443", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.508781" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "305" }, { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI443/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI443/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "942" }, { "type": "SmallVariant", "id": "943" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI443/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI443/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "729" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI443/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI443/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI443/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI443/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "301" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI443/?format=api" } }, { "type": "Combination", "id": "OLI517", "attributes": { "scores": { "familial_evidence": 3, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 3, "final_metascore": 3 }, "omim_id": [], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:46.798749" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "304" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI517/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI517/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1095" }, { "type": "SmallVariant", "id": "1096" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI517/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI517/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "688" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI517/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI517/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI517/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI517/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "156" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI517/?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": 6 } }