Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/genecombinations/46/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI064", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "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": 0 }, "omim_id": [ "OMIM615981", "OMIM615993", "OMIM600151", "OMIM209900", "OMIM615996", "OMIM615990", "OMIM615987", "OMIM615985", "OMIM615995", "OMIM615994", "OMIM615983", "OMIM615991", "OMIM615988", "OMIM615989", "OMIM605231", "OMIM615982", "OMIM617119", "OMIM617406", "OMIM615984", "OMIM615986", "OMIM615992" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:38.427090" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI064/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI064/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "126" }, { "type": "SmallVariant", "id": "127" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI064/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI064/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "617" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI064/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI064/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI064/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI064/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI064/?format=api" } }, { "type": "Combination", "id": "OLI065", "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": 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": 1 }, "omim_id": [ "OMIM615981", "OMIM615993", "OMIM600151", "OMIM209900", "OMIM615996", "OMIM615990", "OMIM615987", "OMIM615985", "OMIM615995", "OMIM615994", "OMIM615983", "OMIM615991", "OMIM615988", "OMIM615989", "OMIM605231", "OMIM615982", "OMIM617119", "OMIM617406", "OMIM615984", "OMIM615986", "OMIM615992" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.442620" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI065/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI065/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "128" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI065/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI065/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "617" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI065/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI065/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI065/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI065/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI065/?format=api" } }, { "type": "Combination", "id": "OLI139", "attributes": { "scores": { "familial_evidence": 0, "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": 0 }, "omim_id": [ "OMIM615981", "OMIM615993", "OMIM600151", "OMIM209900", "OMIM615996", "OMIM615990", "OMIM615987", "OMIM615985", "OMIM615995", "OMIM615994", "OMIM615983", "OMIM615991", "OMIM615988", "OMIM615989", "OMIM605231", "OMIM615982", "OMIM617119", "OMIM617406", "OMIM615984", "OMIM615986", "OMIM615992" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.746902" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI139/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI139/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "82" }, { "type": "SmallVariant", "id": "287" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI139/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI139/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI139/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI139/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI139/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI139/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI139/?format=api" } }, { "type": "Combination", "id": "OLI417", "attributes": { "scores": { "familial_evidence": 0, "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": 0 }, "omim_id": [ "OMIM615981", "OMIM615993", "OMIM600151", "OMIM209900", "OMIM615996", "OMIM615990", "OMIM615987", "OMIM615985", "OMIM615995", "OMIM615994", "OMIM615983", "OMIM615991", "OMIM615988", "OMIM615989", "OMIM605231", "OMIM615982", "OMIM617119", "OMIM617406", "OMIM615984", "OMIM615986", "OMIM615992" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.071709" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI417/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI417/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "894" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI417/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI417/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "779" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI417/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI417/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI417/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI417/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI417/?format=api" } }, { "type": "Combination", "id": "OLI1122", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "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": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615993", "OMIM600151", "OMIM209900", "OMIM615996", "OMIM615990", "OMIM615987", "OMIM615985", "OMIM615995", "OMIM615994", "OMIM615983", "OMIM615991", "OMIM615988", "OMIM615989", "OMIM605231", "OMIM615982", "OMIM617119", "OMIM617406", "OMIM615984", "OMIM615986", "OMIM615992" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Arabic", "lastmodified": "2022-08-04T14:15:37.239823" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "255" }, { "type": "SmallVariant", "id": "2420" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/?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 } }