Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NPHS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "495", "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": 9.158e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.638e-05, "gnomad_NFE_maf": 0.0001938, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0006977 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.499613, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36333453, "genomic_position_hg38": 35842551, "chromosome": "19", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.444471", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2335-1G>A", "protein_change": null, "transcript_id": "NM_004646.4", "dbsnp_id": "rs150038620", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI255" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/495/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/495/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/495/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/495/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/495/?format=api" } }, { "type": "SmallVariant", "id": "497", "attributes": { "frequencies": { "KGP_genomes_maf": 0.004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0072, "gnomad_maf": 0.006048, "gnomad_AFR_maf": 0.001415, "gnomad_AMR_maf": 0.004278, "gnomad_ASJ_maf": 0.001984, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002356, "gnomad_NFE_maf": 0.009273, "gnomad_OTH_maf": 0.007003, "gnomad_SAS_maf": 0.005912, "ESP_AA_maf": 0.001589, "ESP_EA_maf": 0.009767 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.101994, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 36341311, "genomic_position_hg38": 35850409, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.457541", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.563A>T", "protein_change": "p.Asn188Ile", "transcript_id": "NM_004646.3", "dbsnp_id": "rs145125791", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI256" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/497/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/497/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/497/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/497/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/497/?format=api" } }, { "type": "SmallVariant", "id": "499", "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": -0.159752, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36336259, "genomic_position_hg38": 35845357, "chromosome": "19", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.470296", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1930+11C>A", "protein_change": null, "transcript_id": "NM_004646.4", "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI257" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/499/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/499/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/499/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/499/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/499/?format=api" } }, { "type": "SmallVariant", "id": "622", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0108, "KGP_genomes_AFR_maf": 0.0204, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0169, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.01478, "gnomad_AFR_maf": 0.02164, "gnomad_AMR_maf": 0.009275, "gnomad_ASJ_maf": 0.02157, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03211, "gnomad_NFE_maf": 0.01542, "gnomad_OTH_maf": 0.01757, "gnomad_SAS_maf": 0.008924, "ESP_AA_maf": 0.01657, "ESP_EA_maf": 0.0157 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.629833, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 36340187, "genomic_position_hg38": 35849285, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.146030", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.791C>G", "protein_change": "p.Pro264Arg", "transcript_id": "NM_004646.3", "dbsnp_id": "rs34982899", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI321" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/622/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/622/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/622/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/622/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/622/?format=api" } }, { "type": "SmallVariant", "id": "1065", "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": 5.558844, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36342288, "genomic_position_hg38": 35851386, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:46.912205", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.275-2A>C", "protein_change": null, "transcript_id": "NM_004646.3", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI501" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1065/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1065/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1065/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1065/gene/?format=api" }, "data": { "type": "Gene", "id": "NPHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1065/?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 } }