Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/genecombinations/58/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI147", "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": 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": 1 }, "omim_id": [ "OMIM615985", "OMIM615992", "OMIM615990", "OMIM615989", "OMIM615991", "OMIM615994", "OMIM615984", "OMIM615995", "OMIM615993", "OMIM600151", "OMIM617119", "OMIM615987", "OMIM605231", "OMIM615982", "OMIM615988", "OMIM615996", "OMIM615981", "OMIM617406", "OMIM615983", "OMIM209900", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.887944" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI147/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI147/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "298" }, { "type": "SmallVariant", "id": "299" }, { "type": "SmallVariant", "id": "300" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI147/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI147/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI147/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI147/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI147/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI147/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI147/?format=api" } }, { "type": "Combination", "id": "OLI080", "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": 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": 1 }, "omim_id": [ "OMIM203800", "OMIM236700", "OMIM615985", "OMIM615992", "OMIM615990", "OMIM615989", "OMIM615991", "OMIM615994", "OMIM615984", "OMIM615995", "OMIM615993", "OMIM600151", "OMIM617119", "OMIM615987", "OMIM605231", "OMIM615982", "OMIM615988", "OMIM615996", "OMIM615981", "OMIM617406", "OMIM615983", "OMIM209900", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "African", "lastmodified": "2022-11-14T11:28:24.483927" }, "relationships": { "diseases": { "meta": { "count": 3 }, "data": [ { "type": "Disease", "id": "110" }, { "type": "Disease", "id": "64" }, { "type": "Disease", "id": "2473" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI080/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI080/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "161" }, { "type": "SmallVariant", "id": "162" }, { "type": "SmallVariant", "id": "163" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI080/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI080/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "712" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI080/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI080/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI080/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI080/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI080/?format=api" } }, { "type": "Combination", "id": "OLI323", "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": 0, "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": [ "OMIM615985", "OMIM615992", "OMIM615990", "OMIM615989", "OMIM615991", "OMIM615994", "OMIM615984", "OMIM615995", "OMIM615993", "OMIM600151", "OMIM617119", "OMIM615987", "OMIM605231", "OMIM615982", "OMIM615988", "OMIM615996", "OMIM615981", "OMIM617406", "OMIM615983", "OMIM209900", "OMIM615986" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:42.822783" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI323/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI323/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "627" }, { "type": "SmallVariant", "id": "628" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI323/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI323/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "652" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI323/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI323/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI323/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI323/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI323/?format=api" } }, { "type": "Combination", "id": "OLI1120", "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": 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": 0 }, "omim_id": [ "OMIM615985", "OMIM615992", "OMIM615990", "OMIM615989", "OMIM615991", "OMIM615994", "OMIM615984", "OMIM615995", "OMIM615993", "OMIM600151", "OMIM617119", "OMIM615987", "OMIM605231", "OMIM615982", "OMIM615988", "OMIM615996", "OMIM615981", "OMIM617406", "OMIM615983", "OMIM209900", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:36.950349" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "2416" }, { "type": "SmallVariant", "id": "625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/?format=api" } }, { "type": "Combination", "id": "OLI1129", "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": 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": 0 }, "omim_id": [ "OMIM615985", "OMIM615992", "OMIM615990", "OMIM615989", "OMIM615991", "OMIM615994", "OMIM615984", "OMIM615995", "OMIM615993", "OMIM600151", "OMIM617119", "OMIM615987", "OMIM605231", "OMIM615982", "OMIM615988", "OMIM615996", "OMIM615981", "OMIM617406", "OMIM615983", "OMIM209900", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Egyptian", "lastmodified": "2022-08-04T14:15:38.298367" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2432" }, { "type": "SmallVariant", "id": "2433" }, { "type": "SmallVariant", "id": "163" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/?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 } }