Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/genecombinations/71/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI096", "attributes": { "scores": { "familial_evidence": 3, "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": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 3 }, "omim_id": [ "OMIM613693", "OMIM613688", "OMIM192500", "OMIM601005", "OMIM612347", "OMIM611819", "OMIM618447", "OMIM613485", "OMIM616249", "OMIM611818", "OMIM613695", "OMIM600919", "OMIM603830", "OMIM616247", "OMIM220400", "OMIM612955", "OMIM611820" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.011517" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "768" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI096/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI096/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "196" }, { "type": "SmallVariant", "id": "197" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI096/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI096/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "760" }, { "type": "Reference", "id": "926" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI096/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI096/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI096/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI096/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "71" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI096/?format=api" } }, { "type": "Combination", "id": "OLI361", "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": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613693", "OMIM613688", "OMIM192500", "OMIM601005", "OMIM612347", "OMIM611819", "OMIM618447", "OMIM613485", "OMIM616249", "OMIM611818", "OMIM613695", "OMIM600919", "OMIM603830", "OMIM616247", "OMIM220400", "OMIM612955", "OMIM611820" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.135128" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "768" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI361/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI361/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "792" }, { "type": "SmallVariant", "id": "793" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI361/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI361/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "723" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI361/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI361/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI361/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI361/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "71" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI361/?format=api" } }, { "type": "Combination", "id": "OLI362", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM613693", "OMIM613688", "OMIM192500", "OMIM601005", "OMIM612347", "OMIM611819", "OMIM618447", "OMIM613485", "OMIM616249", "OMIM611818", "OMIM613695", "OMIM600919", "OMIM603830", "OMIM616247", "OMIM220400", "OMIM612955", "OMIM611820" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.150996" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "768" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI362/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI362/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "794" }, { "type": "SmallVariant", "id": "795" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI362/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI362/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "723" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI362/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI362/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI362/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI362/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "71" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI362/?format=api" } }, { "type": "Combination", "id": "OLI550", "attributes": { "scores": { "familial_evidence": 1, "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": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM613693", "OMIM613688", "OMIM192500", "OMIM601005", "OMIM612347", "OMIM611819", "OMIM618447", "OMIM613485", "OMIM616249", "OMIM611818", "OMIM613695", "OMIM600919", "OMIM603830", "OMIM616247", "OMIM220400", "OMIM612955", "OMIM611820" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:47.324932" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "768" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI550/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI550/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1144" }, { "type": "SmallVariant", "id": "1145" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI550/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI550/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "687" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI550/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI550/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI550/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI550/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "71" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI550/?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": 4 } }