Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/97562/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI133", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM104200", "OMIM203780", "OMIM301050" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.649351" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "63" }, { "type": "Disease", "id": "97562" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI133/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI133/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "277" }, { "type": "SmallVariant", "id": "278" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI133/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI133/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "703" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI133/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI133/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI133/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI133/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "99" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI133/?format=api" } }, { "type": "Combination", "id": "OLI318", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "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": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM104200", "OMIM203780", "OMIM301050" ], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:42.735474" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "63" }, { "type": "Disease", "id": "97562" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI318/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI318/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "616" }, { "type": "SmallVariant", "id": "617" }, { "type": "SmallVariant", "id": "618" }, { "type": "SmallVariant", "id": "619" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI318/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI318/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "710" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI318/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI318/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI318/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI318/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "210" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI318/?format=api" } }, { "type": "Combination", "id": "OLI319", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM104200", "OMIM203780", "OMIM301050" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:42.749995" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "97562" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI319/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI319/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "616" }, { "type": "SmallVariant", "id": "617" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI319/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI319/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "710" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI319/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI319/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI319/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI319/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "29" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI319/?format=api" } }, { "type": "Combination", "id": "OLI504", "attributes": { "scores": { "familial_evidence": 1, "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": 0, "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": 1, "final_metascore": 1 }, "omim_id": [ "OMIM104200", "OMIM203780", "OMIM301050" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Cypriot", "lastmodified": "2021-11-16T17:59:46.594321" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "97562" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI504/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI504/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1071" }, { "type": "SmallVariant", "id": "1072" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI504/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI504/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "674" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI504/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI504/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI504/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI504/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "350" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI504/?format=api" } }, { "type": "Combination", "id": "OLI916", "attributes": { "scores": { "familial_evidence": 1, "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": 0, "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": 1, "final_metascore": 1 }, "omim_id": [ "OMIM104200", "OMIM203780", "OMIM301050" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Cypriot", "lastmodified": "2021-11-16T17:59:54.774785" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "97562" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI916/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI916/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1071" }, { "type": "SmallVariant", "id": "1072" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI916/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI916/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "674" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI916/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI916/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI916/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI916/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "350" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI916/?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 } }