Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/263/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI016", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:37.588245" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI016/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI016/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "30" }, { "type": "SmallVariant", "id": "31" }, { "type": "SmallVariant", "id": "32" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI016/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI016/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "657" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI016/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI016/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI016/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI016/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "12" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI016/?format=api" } }, { "type": "Combination", "id": "OLI017", "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": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:37.603229" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI017/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI017/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "33" }, { "type": "SmallVariant", "id": "34" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI017/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI017/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "657" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI017/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI017/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI017/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI017/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "13" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI017/?format=api" } }, { "type": "Combination", "id": "OLI415", "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": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.039916" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI415/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI415/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "890" }, { "type": "SmallVariant", "id": "891" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI415/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI415/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "660" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI415/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI415/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI415/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI415/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "276" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI415/?format=api" } }, { "type": "Combination", "id": "OLI569", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "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": "European/Caucasian", "lastmodified": "2021-11-16T17:59:47.675485" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI569/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI569/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1188" }, { "type": "SmallVariant", "id": "1189" }, { "type": "SmallVariant", "id": "1190" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI569/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI569/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "798" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI569/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI569/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI569/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI569/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "381" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI569/?format=api" } }, { "type": "Combination", "id": "OLI570", "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": 1, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "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": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:47.694425" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI570/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI570/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1191" }, { "type": "SmallVariant", "id": "1192" }, { "type": "SmallVariant", "id": "1193" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI570/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI570/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "798" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI570/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI570/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI570/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI570/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "382" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI570/?format=api" } }, { "type": "Combination", "id": "OLI571", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "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": [], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:47.715302" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI571/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI571/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1194" }, { "type": "SmallVariant", "id": "1195" }, { "type": "SmallVariant", "id": "1196" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI571/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI571/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "798" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI571/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI571/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI571/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI571/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "383" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI571/?format=api" } }, { "type": "Combination", "id": "OLI933", "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": 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": 3, "final_metascore": 3 }, "omim_id": [], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:09.553761" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "263" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI933/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI933/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2019" }, { "type": "SmallVariant", "id": "2020" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI933/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI933/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "874" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI933/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI933/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI933/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI933/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "695" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI933/?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) 2024 · 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": 7 } }