Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SCNN1A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1760", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1923, "KGP_genomes_AFR_maf": 0.5053, "KGP_genomes_AMR_maf": 0.0663, "KGP_genomes_EAS_maf": 0.1379, "KGP_genomes_EUR_maf": 0.0507, "KGP_genomes_SAS_maf": 0.0603, "gnomad_maf": 0.07938, "gnomad_AFR_maf": 0.4579, "gnomad_AMR_maf": 0.03068, "gnomad_ASJ_maf": 0.04591, "gnomad_EAS_maf": 0.1401, "gnomad_FIN_maf": 0.09985, "gnomad_NFE_maf": 0.03884, "gnomad_OTH_maf": 0.05543, "gnomad_SAS_maf": 0.04958, "ESP_AA_maf": 0.4483, "ESP_EA_maf": 0.03698 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.483694, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6464581, "genomic_position_hg38": 6355415, "chromosome": "12", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:51.151529", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1069G>A", "protein_change": "p.Ala357Thr", "transcript_id": "NM_001159575.1", "dbsnp_id": "rs11542844", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI800" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1760/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1760/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1760/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1760/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1760/?format=api" } }, { "type": "SmallVariant", "id": "1764", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0345, "KGP_genomes_AFR_maf": 0.1104, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0159, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.007063, "gnomad_AFR_maf": 0.089, "gnomad_AMR_maf": 0.004493, "gnomad_ASJ_maf": 0.0001046, "gnomad_EAS_maf": 0.003658, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003372, "gnomad_OTH_maf": 0.004916, "gnomad_SAS_maf": 0.003065, "ESP_AA_maf": 0.0895, "ESP_EA_maf": 0.0005817 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.783486, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6457196, "genomic_position_hg38": 6348030, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.177628", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1922G>T", "protein_change": "p.Cys641Phe", "transcript_id": "NM_001159575.1", "dbsnp_id": "rs3741913", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI802" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1764/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1764/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1764/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1764/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1764/?format=api" } }, { "type": "SmallVariant", "id": "1766", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0072, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0209, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 0.01861, "gnomad_AFR_maf": 0.004611, "gnomad_AMR_maf": 0.01178, "gnomad_ASJ_maf": 0.03459, "gnomad_EAS_maf": 5.64e-05, "gnomad_FIN_maf": 0.01477, "gnomad_NFE_maf": 0.02716, "gnomad_OTH_maf": 0.0208, "gnomad_SAS_maf": 0.0106, "ESP_AA_maf": 0.003864, "ESP_EA_maf": 0.01745 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.112424, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6472753, "genomic_position_hg38": 6363587, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.190580", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.609G>T", "protein_change": "p.Leu203Leu", "transcript_id": "NM_001159575.1", "dbsnp_id": "rs55859427", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI803" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1766/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1766/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1766/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1766/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1766/?format=api" } }, { "type": "SmallVariant", "id": "1767", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0072, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0209, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 0.0186, "gnomad_AFR_maf": 0.004626, "gnomad_AMR_maf": 0.01176, "gnomad_ASJ_maf": 0.03455, "gnomad_EAS_maf": 5.643e-05, "gnomad_FIN_maf": 0.01478, "gnomad_NFE_maf": 0.02714, "gnomad_OTH_maf": 0.02082, "gnomad_SAS_maf": 0.01067, "ESP_AA_maf": 0.003409, "ESP_EA_maf": 0.01641 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.223628, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6472752, "genomic_position_hg38": 6363586, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.197123", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.610C>T", "protein_change": "p.Arg204Trp", "transcript_id": "NM_001159575.2", "dbsnp_id": "rs55797039", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI803" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1767/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1767/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1767/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1767/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1767/?format=api" } }, { "type": "SmallVariant", "id": "1770", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004746, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 0.00159, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.301e-05, "gnomad_NFE_maf": 0.0005124, "gnomad_OTH_maf": 0.0003262, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0005814 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.200386, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6471182, "genomic_position_hg38": 6362016, "chromosome": "12", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:51.216473", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.944+35G>A", "protein_change": null, "transcript_id": "NM_001159576.2):c.1052+35G>A", "dbsnp_id": "rs55773452", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI805" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1770/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1770/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1770/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1770/gene/?format=api" }, "data": { "type": "Gene", "id": "SCNN1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1770/?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": 5 } }