Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SLC29A3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3169", "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": 3.183e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0004349, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 3.630258, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73121908, "genomic_position_hg38": 71362151, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.496898", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.971C>T", "protein_change": "p.Pro324Leu", "transcript_id": "NM_018344", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1513" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3169/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3169/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3169/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3169/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3169/?format=api" } }, { "type": "SmallVariant", "id": "3179", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0002426, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002602, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003262, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003428, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.011531, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73103990, "genomic_position_hg38": 71344233, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.554184", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.325G>A", "protein_change": "p.Val109Ile", "transcript_id": "NM_001174098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3179/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3179/?format=api" } }, { "type": "SmallVariant", "id": "3281", "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": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.794e-06, "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": 3.862283, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73122025, "genomic_position_hg38": 71362268, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.174068", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1088G>A", "protein_change": "p.Arg363Gln", "transcript_id": "NM_018344", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1560" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3281/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3281/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3281/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3281/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3281/?format=api" } }, { "type": "SmallVariant", "id": "3290", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.000342, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 9.921e-05, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0003698, "gnomad_NFE_maf": 0.0002549, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0009799, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.457547, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73115934, "genomic_position_hg38": 71356177, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.228821", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.707C>T", "protein_change": "p.Thr236Met", "transcript_id": "NM_001174098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1563" }, { "type": "Combination", "id": "OLI1573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3290/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3290/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3290/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3290/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3290/?format=api" } }, { "type": "SmallVariant", "id": "3326", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0038, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006009, "gnomad_AFR_maf": 0.007261, "gnomad_AMR_maf": 0.0004915, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 9.684e-05, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.523425, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73121938, "genomic_position_hg38": 71362181, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.447399", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1001A>G", "protein_change": "p.Asn334Ser", "transcript_id": "NM_018344", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1577" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3326/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3326/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3326/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3326/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3326/?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 } }