Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SLC7A9/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "354", "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": "19", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:51.072521", "ref_allele": null, "alt_allele": null, "cdna_change": "c.789+2T>C", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI180" }, { "type": "Combination", "id": "OLI181" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/354/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/354/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/354/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/354/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC7A9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/354/?format=api" } }, { "type": "SmallVariant", "id": "334", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.684249, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33355167, "genomic_position_hg38": 32864261, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.483000", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.311G>A", "protein_change": "p.Gly105Arg", "transcript_id": null, "dbsnp_id": "rs121908480", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI166" }, { "type": "Combination", "id": "OLI178" }, { "type": "Combination", "id": "OLI179" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/334/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/334/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/334/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/334/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC7A9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/334/?format=api" } }, { "type": "SmallVariant", "id": "352", "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": 0.0001074, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0002977, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001934, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.710388, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33353033, "genomic_position_hg38": 32862127, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.588642", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.695A>G", "protein_change": "p.Tyr232Cys", "transcript_id": "NM_001126335.1", "dbsnp_id": "rs121908487", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI178" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/352/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/352/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/352/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/352/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC7A9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/352/?format=api" } }, { "type": "SmallVariant", "id": "3400", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006131, "gnomad_AFR_maf": 6.161e-05, "gnomad_AMR_maf": 2.892e-05, "gnomad_ASJ_maf": 0.004267, "gnomad_EAS_maf": 0.004567, "gnomad_FIN_maf": 0.0005564, "gnomad_NFE_maf": 7.922e-05, "gnomad_OTH_maf": 0.0004896, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.667811, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33350791, "genomic_position_hg38": 32859885, "chromosome": "19", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:24.043701", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.829G>A", "protein_change": "p.Val277Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1612" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3400/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3400/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3400/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3400/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC7A9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3400/?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 } }