Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI747/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1650", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.003378, "gnomad_AFR_maf": 0.0007386, "gnomad_AMR_maf": 0.002256, "gnomad_ASJ_maf": 0.002283, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009701, "gnomad_NFE_maf": 0.005597, "gnomad_OTH_maf": 0.003424, "gnomad_SAS_maf": 0.001894, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.006628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.712424, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 109795742, "genomic_position_hg38": 109253120, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.480052", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.3041T>A", "protein_change": "p.Leu1014His", "transcript_id": "NM_001408.2", "dbsnp_id": "rs115856488", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI747" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1650/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1650/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1650/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1650/gene/?format=api" }, "data": { "type": "Gene", "id": "CELSR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1650/?format=api" } }, { "type": "SmallVariant", "id": "1651", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001651, "gnomad_AFR_maf": 0.0009158, "gnomad_AMR_maf": 0.002013, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001429, "gnomad_NFE_maf": 0.002745, "gnomad_OTH_maf": 0.001751, "gnomad_SAS_maf": 0.000398, "ESP_AA_maf": 0.0004737, "ESP_EA_maf": 0.003161 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.282295, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 54671859, "genomic_position_hg38": 56594498, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.486405", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.275G>A", "protein_change": "p.Gly92Glu", "transcript_id": "NM_005450.4", "dbsnp_id": "rs199566527", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI747" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1651/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1651/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1651/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1651/gene/?format=api" }, "data": { "type": "Gene", "id": "NOG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1651/?format=api" } }, { "type": "SmallVariant", "id": "1652", "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": 3.986e-06, "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": 8.819e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.246888, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 160113718, "genomic_position_hg38": 159692686, "chromosome": "6", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.492786", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.201G>C", "protein_change": "p.Glu67Asp", "transcript_id": "NM_000636.3", "dbsnp_id": "rs1394619691", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI747" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1652/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1652/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1652/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1652/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1652/?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 } }