Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/genecombinations/377/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI561", "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": 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": [ "OMIM300857", "OMIM613435", "OMIM608030", "OMIM611895", "OMIM616208", "OMIM612577", "OMIM613954", "OMIM612069", "OMIM617892", "OMIM615426", "OMIM606070", "OMIM606640", "OMIM614808", "OMIM615515", "OMIM608031", "OMIM617839", "OMIM616437", "OMIM608627", "OMIM614696", "OMIM205250", "OMIM105400" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:47.527088" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI561/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI561/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1171" }, { "type": "CopyNumberVariant", "id": "530" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI561/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI561/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "789" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI561/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI561/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI561/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI561/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "377" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI561/?format=api" } }, { "type": "Combination", "id": "OLI579", "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": 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": [ "OMIM300857", "OMIM613435", "OMIM608030", "OMIM611895", "OMIM616208", "OMIM612577", "OMIM600795", "OMIM613954", "OMIM612069", "OMIM617892", "OMIM615426", "OMIM606070", "OMIM606640", "OMIM614808", "OMIM615515", "OMIM608031", "OMIM172700", "OMIM617839", "OMIM616437", "OMIM600274", "OMIM608627", "OMIM614696", "OMIM205250", "OMIM607485", "OMIM105400" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:47.964503" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "803" }, { "type": "Disease", "id": "282" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI579/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI579/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1224" }, { "type": "CopyNumberVariant", "id": "1225" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI579/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI579/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "797" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI579/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI579/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI579/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI579/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "377" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI579/?format=api" } }, { "type": "Combination", "id": "OLI630", "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": 1, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM300857", "OMIM613435", "OMIM608030", "OMIM611895", "OMIM616208", "OMIM612577", "OMIM613954", "OMIM612069", "OMIM617892", "OMIM615426", "OMIM606070", "OMIM606640", "OMIM614808", "OMIM615515", "OMIM608031", "OMIM617839", "OMIM616437", "OMIM608627", "OMIM614696", "OMIM205250", "OMIM105400" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:49.269848" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI630/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI630/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1376" }, { "type": "CopyNumberVariant", "id": "530" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI630/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI630/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "831" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI630/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI630/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI630/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI630/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "377" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI630/?format=api" } }, { "type": "Combination", "id": "OLI631", "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": 1, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM300857", "OMIM613435", "OMIM608030", "OMIM611895", "OMIM616208", "OMIM612577", "OMIM613954", "OMIM612069", "OMIM617892", "OMIM615426", "OMIM606070", "OMIM606640", "OMIM614808", "OMIM615515", "OMIM608031", "OMIM617839", "OMIM616437", "OMIM608627", "OMIM614696", "OMIM205250", "OMIM105400" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:49.283622" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI631/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI631/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1375" }, { "type": "CopyNumberVariant", "id": "530" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI631/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI631/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "831" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI631/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI631/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI631/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI631/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "377" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI631/?format=api" } }, { "type": "Combination", "id": "OLI774", "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": 1, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM300857", "OMIM613435", "OMIM608030", "OMIM611895", "OMIM616208", "OMIM612577", "OMIM613954", "OMIM612069", "OMIM617892", "OMIM615426", "OMIM606070", "OMIM606640", "OMIM614808", "OMIM615515", "OMIM608031", "OMIM617839", "OMIM616437", "OMIM608627", "OMIM614696", "OMIM205250", "OMIM105400" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:52.188733" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI774/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI774/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1707" }, { "type": "CopyNumberVariant", "id": "530" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI774/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI774/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "834" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI774/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI774/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI774/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI774/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "377" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI774/?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 } }