Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI571/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1194", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.005489, "gnomad_AFR_maf": 0.001538, "gnomad_AMR_maf": 0.001619, "gnomad_ASJ_maf": 0.0001984, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.009239, "gnomad_NFE_maf": 0.00869, "gnomad_OTH_maf": 0.005049, "gnomad_SAS_maf": 0.002548, "ESP_AA_maf": 0.002951, "ESP_EA_maf": 0.0107 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.23087, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 71753416, "genomic_position_hg38": 71526286, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.699581", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1120G>C", "protein_change": "p.Val374Leu", "transcript_id": "NM_003494.3", "dbsnp_id": "rs150724610", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI571" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1194/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1194/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1194/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1194/gene/?format=api" }, "data": { "type": "Gene", "id": "DYSF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1194/?format=api" } }, { "type": "SmallVariant", "id": "1195", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001315, "gnomad_AFR_maf": 0.00111, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.442e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001058, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.27e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.049744, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 71906365, "genomic_position_hg38": 71679235, "chromosome": "2", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.705524", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5946G>A", "protein_change": "p.Ala1982=", "transcript_id": "NM_003494.3", "dbsnp_id": "rs138936064", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI571" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1195/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1195/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1195/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1195/gene/?format=api" }, "data": { "type": "Gene", "id": "DYSF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1195/?format=api" } }, { "type": "SmallVariant", "id": "1196", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.758e-05, "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": 3.667223, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 23886422, "genomic_position_hg38": 23417213, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.711532", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4459G>A", "protein_change": "p.Ala1487Thr", "transcript_id": "NM_000257.3", "dbsnp_id": "rs766909770", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI571" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1196/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1196/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1196/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1196/gene/?format=api" }, "data": { "type": "Gene", "id": "MYH7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1196/?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 } }