Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/49382/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI043", "attributes": { "scores": { "familial_evidence": 0, "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": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.060435" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI043/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI043/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "89" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI043/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI043/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI043/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI043/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI043/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI043/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI043/?format=api" } }, { "type": "Combination", "id": "OLI046", "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": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 2, "final_metascore": 2 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.111216" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI046/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI046/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "92" }, { "type": "SmallVariant", "id": "93" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI046/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI046/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI046/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI046/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI046/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI046/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI046/?format=api" } }, { "type": "Combination", "id": "OLI047", "attributes": { "scores": { "familial_evidence": 2, "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": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 3, "final_metascore": 3 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.131096" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI047/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI047/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "92" }, { "type": "SmallVariant", "id": "94" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI047/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI047/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI047/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI047/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI047/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI047/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI047/?format=api" } }, { "type": "Combination", "id": "OLI048", "attributes": { "scores": { "familial_evidence": 2, "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": 2, "functional_gene_evidence_metascore": 3, "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": 2, "final_metascore": 2 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.149850" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI048/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI048/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "95" }, { "type": "SmallVariant", "id": "96" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI048/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI048/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI048/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI048/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI048/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI048/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI048/?format=api" } }, { "type": "Combination", "id": "OLI049", "attributes": { "scores": { "familial_evidence": 0, "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": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.170299" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI049/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI049/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "92" }, { "type": "SmallVariant", "id": "97" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI049/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI049/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI049/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI049/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI049/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI049/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI049/?format=api" } }, { "type": "Combination", "id": "OLI050", "attributes": { "scores": { "familial_evidence": 2, "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": 2, "functional_gene_evidence_metascore": 3, "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": 2, "final_metascore": 2 }, "omim_id": [ "OMIM616517", "OMIM613093", "OMIM216900", "OMIM610024", "OMIM613856", "OMIM262300" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:38.190697" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "49382" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI050/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI050/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "87" }, { "type": "SmallVariant", "id": "98" }, { "type": "SmallVariant", "id": "99" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI050/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI050/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "620" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI050/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI050/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI050/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI050/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "34" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI050/?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": 6 } }