Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/KLB/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2907", "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": 7.954e-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": 8.793e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.879901, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39435930, "genomic_position_hg38": 39434310, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.952386", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.926G>A", "protein_change": "p.Arg309Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1386" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2907/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2907/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2907/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2907/gene/?format=api" }, "data": { "type": "Gene", "id": "KLB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2907/?format=api" } }, { "type": "SmallVariant", "id": "2913", "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": 4.376e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0008932, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.796e-06, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.500975, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39450203, "genomic_position_hg38": 39448583, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.988751", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3032T>C", "protein_change": "p.Leu1011Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1388" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2913/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2913/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2913/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2913/gene/?format=api" }, "data": { "type": "Gene", "id": "KLB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2913/?format=api" } }, { "type": "SmallVariant", "id": "2983", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 7.556e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0006206, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.093566, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 39450130, "genomic_position_hg38": 39448510, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.415099", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2959G>A", "protein_change": "p.Val987Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1418" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2983/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2983/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2983/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2983/gene/?format=api" }, "data": { "type": "Gene", "id": "KLB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2983/?format=api" } }, { "type": "SmallVariant", "id": "2985", "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": 5.026e-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": 1.835e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0003549, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.793883, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 39409389, "genomic_position_hg38": 39407769, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.429131", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.820A>G", "protein_change": "p.Ile274Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1419" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2985/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2985/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2985/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2985/gene/?format=api" }, "data": { "type": "Gene", "id": "KLB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2985/?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": 4 } }