Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI877/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1906", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.421574, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103214609, "genomic_position_hg38": 103574162, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.035701", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.4441A>C", "protein_change": "p.Lys1481Gln", "transcript_id": "NM_005045.3", "dbsnp_id": "rs896069835", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI872" }, { "type": "Combination", "id": "OLI875" }, { "type": "Combination", "id": "OLI876" }, { "type": "Combination", "id": "OLI877" }, { "type": "Combination", "id": "OLI878" }, { "type": "Combination", "id": "OLI900" }, { "type": "Combination", "id": "OLI901" }, { "type": "Combination", "id": "OLI905" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1906/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1906/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1906/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1906/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1906/?format=api" } }, { "type": "SmallVariant", "id": "1912", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 3.681e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.93e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.663e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.7e-05, "gnomad_OTH_maf": 0.0003377, "gnomad_SAS_maf": 3.36e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.296385, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 61693620, "genomic_position_hg38": 60781061, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.074748", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1727C>T", "protein_change": "p.Pro576Leu", "transcript_id": "NM_017780.3", "dbsnp_id": "rs746633621", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI877" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1912/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1912/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1912/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1912/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1912/?format=api" } }, { "type": "SmallVariant", "id": "1913", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 8.373e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001763, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.274e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.577888, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 11308103, "genomic_position_hg38": 11248046, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.081119", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.889G>A", "protein_change": "p.Asp297Asn", "transcript_id": "NM_004958.3", "dbsnp_id": "rs141936187", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI877" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1913/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1913/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1913/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1913/gene/?format=api" }, "data": { "type": "Gene", "id": "MTOR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1913/?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" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 3 } }