Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/101997/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI138", "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": 2, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:39.731172" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI138/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI138/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "285" }, { "type": "SmallVariant", "id": "286" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI138/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI138/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "626" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI138/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI138/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI138/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI138/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "103" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI138/?format=api" } }, { "type": "Combination", "id": "OLI219", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 2, "final_metascore": 2 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Middle eastern", "lastmodified": "2021-11-16T17:59:41.078656" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI219/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI219/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "426" }, { "type": "SmallVariant", "id": "427" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI219/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI219/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "643" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI219/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI219/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI219/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI219/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "144" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI219/?format=api" } }, { "type": "Combination", "id": "OLI1328", "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.083465" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1328/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1328/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2786" }, { "type": "SmallVariant", "id": "2787" }, { "type": "SmallVariant", "id": "2788" }, { "type": "SmallVariant", "id": "2789" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1328/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1328/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1328/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1328/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1328/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1328/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "932" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1328/?format=api" } }, { "type": "Combination", "id": "OLI1329", "attributes": { "scores": { "familial_evidence": 0, "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.205650" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1329/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1329/diseases/?format=api" } }, "variant_set": { "meta": { "count": 5 }, "data": [ { "type": "SmallVariant", "id": "2790" }, { "type": "SmallVariant", "id": "2791" }, { "type": "SmallVariant", "id": "2792" }, { "type": "SmallVariant", "id": "2793" }, { "type": "SmallVariant", "id": "2794" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1329/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1329/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1329/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1329/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1329/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1329/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "933" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1329/?format=api" } }, { "type": "Combination", "id": "OLI1330", "attributes": { "scores": { "familial_evidence": 0, "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.306651" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1330/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1330/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2795" }, { "type": "SmallVariant", "id": "2796" }, { "type": "SmallVariant", "id": "2797" }, { "type": "SmallVariant", "id": "2798" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1330/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1330/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1330/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1330/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1330/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1330/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "934" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1330/?format=api" } }, { "type": "Combination", "id": "OLI1331", "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.408180" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1331/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1331/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2799" }, { "type": "SmallVariant", "id": "2800" }, { "type": "SmallVariant", "id": "2801" }, { "type": "SmallVariant", "id": "2802" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1331/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1331/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1331/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1331/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1331/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1331/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "935" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1331/?format=api" } }, { "type": "Combination", "id": "OLI1332", "attributes": { "scores": { "familial_evidence": 0, "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.540358" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1332/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1332/diseases/?format=api" } }, "variant_set": { "meta": { "count": 5 }, "data": [ { "type": "SmallVariant", "id": "2803" }, { "type": "SmallVariant", "id": "2804" }, { "type": "SmallVariant", "id": "2805" }, { "type": "SmallVariant", "id": "2806" }, { "type": "SmallVariant", "id": "2807" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1332/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1332/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1332/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1332/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1332/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1332/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "936" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1332/?format=api" } }, { "type": "Combination", "id": "OLI1333", "attributes": { "scores": { "familial_evidence": 0, "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": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.758523" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1333/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1333/diseases/?format=api" } }, "variant_set": { "meta": { "count": 8 }, "data": [ { "type": "SmallVariant", "id": "2808" }, { "type": "SmallVariant", "id": "2809" }, { "type": "SmallVariant", "id": "2810" }, { "type": "SmallVariant", "id": "2811" }, { "type": "SmallVariant", "id": "2812" }, { "type": "SmallVariant", "id": "2813" }, { "type": "SmallVariant", "id": "2814" }, { "type": "SmallVariant", "id": "2815" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1333/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1333/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1333/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1333/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1333/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1333/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "937" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1333/?format=api" } }, { "type": "Combination", "id": "OLI1334", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:48.817846" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "101997" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1334/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1334/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2816" }, { "type": "SmallVariant", "id": "2817" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1334/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1334/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1334/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1334/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1334/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1334/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "938" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1334/?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": 9 } }