Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SCN5A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "947", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.186638, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38593012, "genomic_position_hg38": 38551521, "chromosome": "3", "annotation_flag": "manually_attributed", "lastmodified": "2023-12-19T09:24:19.651776", "ref_allele": "GAAG", "alt_allele": "G", "cdna_change": "c.4844TCTT>T", "protein_change": "p.Phe1617del", "transcript_id": "NM_000335.5", "dbsnp_id": "rs749697698", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI445" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/947/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/947/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/947/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/947/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/947/?format=api" } }, { "type": "SmallVariant", "id": "357", "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": 1.989e-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": 4.396e-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": "Damaging", "cadd_prediction": 3.128888, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38597188, "genomic_position_hg38": 38555697, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.606867", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.4501C>G", "protein_change": "p.Leu1501Val", "transcript_id": "NM_001099404.1", "dbsnp_id": "rs199473266", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI183" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/357/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/357/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/357/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/357/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/357/?format=api" } }, { "type": "SmallVariant", "id": "393", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004908, "gnomad_AFR_maf": 0.0002584, "gnomad_AMR_maf": 0.0005213, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03873, "gnomad_NFE_maf": 0.002953, "gnomad_OTH_maf": 0.005456, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002446, "ESP_EA_maf": 0.002388 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.963043, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38645378, "genomic_position_hg38": 38603887, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.830090", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1715C>A", "protein_change": "p.Ala572Asp", "transcript_id": "NM_001099404.1", "dbsnp_id": "rs36210423", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI202" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/393/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/393/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/393/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/393/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/393/?format=api" } }, { "type": "SmallVariant", "id": "797", "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": 0.0002722, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.786e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.069e-05, "gnomad_OTH_maf": 0.0001649, "gnomad_SAS_maf": 0.001862, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.91032, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38592408, "genomic_position_hg38": 38550917, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.265055", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5455G>A", "protein_change": "p.Asp1819Asn", "transcript_id": "NM_001160160.1", "dbsnp_id": "rs137854619", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI363" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/797/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/797/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/797/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/797/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/797/?format=api" } }, { "type": "SmallVariant", "id": "799", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.403777, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38592995, "genomic_position_hg38": 38551504, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.277752", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4868G>A", "protein_change": "p.Arg1623Gln", "transcript_id": "NM_001099404.1", "dbsnp_id": "rs137854600", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI364" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/799/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/799/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/799/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/799/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/799/?format=api" } }, { "type": "SmallVariant", "id": "1395", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0124, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0585, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005351, "gnomad_AFR_maf": 6.644e-05, "gnomad_AMR_maf": 0.0002971, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.06191, "gnomad_FIN_maf": 0.0009509, "gnomad_NFE_maf": 0.001112, "gnomad_OTH_maf": 0.003868, "gnomad_SAS_maf": 0.0006812, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.814004, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38616876, "genomic_position_hg38": 38575385, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.854192", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3578G>A", "protein_change": "p.Arg1193Gln", "transcript_id": "NM_001099404.1", "dbsnp_id": "rs41261344", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI645" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1395/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1395/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1395/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1395/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1395/?format=api" } }, { "type": "SmallVariant", "id": "2141", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 8.024e-06, "gnomad_AFR_maf": 0.0001291, "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": 0.0002364, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.224275, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38592107, "genomic_position_hg38": 38550616, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.477743", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5594G>A", "protein_change": "p.Arg1865His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI985" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2141/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2141/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2141/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2141/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2141/?format=api" } }, { "type": "SmallVariant", "id": "2599", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.530585, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38592932, "genomic_position_hg38": 38551441, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.085613", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4769G>A", "protein_change": "p.Arg1590His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1227" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2599/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2599/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2599/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2599/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2599/?format=api" } }, { "type": "SmallVariant", "id": "2601", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.403777, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38592995, "genomic_position_hg38": 38551504, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.097475", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4868G>A", "protein_change": "p.Arg1623Gln", "transcript_id": "NM_198056.2", "dbsnp_id": "rs137854600", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1228" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2601/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2601/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2601/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2601/gene/?format=api" }, "data": { "type": "Gene", "id": "SCN5A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2601/?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": 9 } }