Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NKX2-5/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2378", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "5", "annotation_flag": null, "lastmodified": "2022-08-04T14:15:33.326627", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.214dup", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1092" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2378/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2378/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2378/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2378/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2378/?format=api" } }, { "type": "SmallVariant", "id": "308", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 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": 3.909943, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 172660099, "genomic_position_hg38": 173233096, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.333947", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.448G>A", "protein_change": "p.Val150Ile", "transcript_id": "NM_004387.4", "dbsnp_id": "rs201582515", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI151" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/308/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/308/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/308/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/308/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/308/?format=api" } }, { "type": "SmallVariant", "id": "1333", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.0009044, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002057, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007973, "gnomad_NFE_maf": 0.001101, "gnomad_OTH_maf": 0.0003438, "gnomad_SAS_maf": 0.002415, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0008168 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.490235, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 172660192, "genomic_position_hg38": 173233189, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.538541", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.355G>T", "protein_change": "p.Ala119Ser", "transcript_id": "NM_004387", "dbsnp_id": "rs137852684", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI606" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1333/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1333/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1333/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1333/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1333/?format=api" } }, { "type": "SmallVariant", "id": "3154", "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": 2.182453, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 172659905, "genomic_position_hg38": 173232902, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.407169", "ref_allele": "A", "alt_allele": "AGGC", "cdna_change": "c.639_641dup", "protein_change": "p.Pro214dup", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1506" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3154/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3154/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3154/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3154/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3154/?format=api" } }, { "type": "SmallVariant", "id": "3393", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 0.0002482, "gnomad_AFR_maf": 0.0002428, "gnomad_AMR_maf": 6.26e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000101, "gnomad_NFE_maf": 0.0004757, "gnomad_OTH_maf": 0.0001821, "gnomad_SAS_maf": 3.393e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.73197, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 172659915, "genomic_position_hg38": 173232912, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.856056", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.632C>T", "protein_change": "p.Pro211Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1609" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3393/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3393/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3393/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3393/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3393/?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 } }