Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/RYR2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1401", "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": 4.015e-06, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": "Benign", "cadd_prediction": 2.141453, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 237753154, "genomic_position_hg38": 237589854, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.895020", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.3660T>A", "protein_change": "p.Asp1220Glu", "transcript_id": "NM_001035.2", "dbsnp_id": "rs1019112544", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1401/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1401/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1401/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1401/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1401/?format=api" } }, { "type": "SmallVariant", "id": "2125", "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": 8.023e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.892531, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 237664157, "genomic_position_hg38": 237500857, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.370782", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.2350A>T", "protein_change": "p.Ile784Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI981" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2125/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2125/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2125/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2125/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2125/?format=api" } }, { "type": "SmallVariant", "id": "3074", "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": 3.405e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.036e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.642e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.897926, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 237868632, "genomic_position_hg38": 237705332, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.944774", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.9569G>A", "protein_change": "p.Arg3190Gln", "transcript_id": "NM_001035", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1463" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3074/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3074/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3074/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3074/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3074/?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 } }