Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/genecombinations/106/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI144", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "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": 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": [ "OMIM617406", "OMIM209900", "OMIM615987", "OMIM615981", "OMIM615990", "OMIM600151", "OMIM615994", "OMIM615996", "OMIM615983", "OMIM617119", "OMIM605231", "OMIM615982", "OMIM615991", "OMIM615992", "OMIM615986", "OMIM615995", "OMIM615988", "OMIM615993", "OMIM615985", "OMIM615989", "OMIM615984" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.836099" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI144/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI144/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "202" }, { "type": "SmallVariant", "id": "203" }, { "type": "SmallVariant", "id": "294" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI144/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI144/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI144/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI144/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI144/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI144/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "106" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI144/?format=api" } }, { "type": "Combination", "id": "OLI172", "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": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM617406", "OMIM209900", "OMIM615987", "OMIM615981", "OMIM615990", "OMIM600151", "OMIM615994", "OMIM615996", "OMIM615983", "OMIM617119", "OMIM605231", "OMIM615982", "OMIM615991", "OMIM615992", "OMIM615986", "OMIM615995", "OMIM615988", "OMIM615993", "OMIM615985", "OMIM615989", "OMIM615984" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:40.304976" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI172/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI172/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "341" }, { "type": "SmallVariant", "id": "342" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI172/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI172/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "753" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI172/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI172/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI172/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI172/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "106" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI172/?format=api" } }, { "type": "Combination", "id": "OLI176", "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM617406", "OMIM209900", "OMIM615987", "OMIM615981", "OMIM615990", "OMIM600151", "OMIM615994", "OMIM615996", "OMIM615983", "OMIM617119", "OMIM605231", "OMIM615982", "OMIM615991", "OMIM615992", "OMIM615986", "OMIM615995", "OMIM615988", "OMIM615993", "OMIM615985", "OMIM615989", "OMIM615984" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:40.374084" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI176/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI176/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "347" }, { "type": "SmallVariant", "id": "349" }, { "type": "SmallVariant", "id": "350" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI176/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI176/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "753" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI176/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI176/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI176/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI176/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "106" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI176/?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": 3 } }