Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/54260/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI123", "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": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.472479" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "2020" }, { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI123/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI123/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "253" }, { "type": "SmallVariant", "id": "254" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI123/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI123/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "629" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI123/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI123/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI123/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI123/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "93" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI123/?format=api" } }, { "type": "Combination", "id": "OLI232", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM610543", "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM180849", "OMIM617760", "OMIM615396", "OMIM613684", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:41.304406" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "54260" }, { "type": "Disease", "id": "783" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI232/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI232/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "451" }, { "type": "SmallVariant", "id": "452" }, { "type": "SmallVariant", "id": "453" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI232/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI232/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "717" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI232/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI232/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI232/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI232/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "149" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI232/?format=api" } }, { "type": "Combination", "id": "OLI606", "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": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 3, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 3, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 3, "final_metascore": 3 }, "omim_id": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:48.849396" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI606/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI606/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1331" }, { "type": "SmallVariant", "id": "1332" }, { "type": "SmallVariant", "id": "1333" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI606/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI606/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "802" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI606/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI606/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI606/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI606/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "414" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI606/?format=api" } }, { "type": "Combination", "id": "OLI976", "attributes": { "scores": { "familial_evidence": 2, "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": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2022-08-04T14:15:16.027677" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI976/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI976/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2113" }, { "type": "SmallVariant", "id": "2114" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI976/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI976/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "884" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI976/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI976/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI976/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI976/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "728" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI976/?format=api" } }, { "type": "Combination", "id": "OLI977", "attributes": { "scores": { "familial_evidence": 2, "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": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2022-08-04T14:15:16.152765" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI977/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI977/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2115" }, { "type": "SmallVariant", "id": "2116" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI977/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI977/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "884" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI977/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI977/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI977/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI977/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "729" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI977/?format=api" } }, { "type": "Combination", "id": "OLI978", "attributes": { "scores": { "familial_evidence": 1, "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": 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": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2022-08-04T14:15:16.277760" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI978/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI978/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2117" }, { "type": "SmallVariant", "id": "2118" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI978/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI978/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "884" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI978/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI978/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI978/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI978/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "730" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI978/?format=api" } }, { "type": "Combination", "id": "OLI979", "attributes": { "scores": { "familial_evidence": 1, "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": 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": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2022-08-04T14:15:16.569520" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI979/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI979/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2119" }, { "type": "SmallVariant", "id": "2120" }, { "type": "SmallVariant", "id": "2121" }, { "type": "SmallVariant", "id": "2122" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI979/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI979/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "884" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI979/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI979/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI979/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI979/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "731" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI979/?format=api" } }, { "type": "Combination", "id": "OLI1212", "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": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM611878", "OMIM601493", "OMIM601494", "OMIM255310", "OMIM609470", "OMIM613424", "OMIM604169", "OMIM615373", "OMIM617760", "OMIM615396", "OMIM613426", "OMIM300580", "OMIM615092" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Japanese", "lastmodified": "2022-08-04T14:15:48.663942" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "54260" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1212/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1212/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2575" }, { "type": "SmallVariant", "id": "2576" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1212/relationships/variant_set?format=api", "related": 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"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": 8 } }