Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GLDC/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1551", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.013, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.006423, "gnomad_AFR_maf": 0.001148, "gnomad_AMR_maf": 0.002172, "gnomad_ASJ_maf": 0.0001009, "gnomad_EAS_maf": 0.0001102, "gnomad_FIN_maf": 0.03865, "gnomad_NFE_maf": 0.0056, "gnomad_OTH_maf": 0.006346, "gnomad_SAS_maf": 0.0001699, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.002907 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.512973, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 6554781, "genomic_position_hg38": 6554781, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.853214", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2203G>T", "protein_change": "p.Val735Leu", "transcript_id": "NM_000170.2", "dbsnp_id": "rs143119940", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI709" }, { "type": "Combination", "id": "OLI760" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1551/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1551/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1551/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1551/gene/?format=api" }, "data": { "type": "Gene", "id": "GLDC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1551/?format=api" } }, { "type": "SmallVariant", "id": "1583", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003385, "gnomad_AFR_maf": 0.0001233, "gnomad_AMR_maf": 0.0002894, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006478, "gnomad_NFE_maf": 0.0004665, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0001636, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.263666, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6534775, "genomic_position_hg38": 6534775, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.054236", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2852C>A", "protein_change": "p.Ser951Tyr", "transcript_id": "NM_000170.2", "dbsnp_id": "rs147472391", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1583/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1583/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1583/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1583/gene/?format=api" }, "data": { "type": "Gene", "id": "GLDC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1583/?format=api" } }, { "type": "SmallVariant", "id": "1624", "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": 3.977e-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": 8.791e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.251004, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6605157, "genomic_position_hg38": 6605157, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.311472", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.835C>A", "protein_change": "p.Leu279Ile", "transcript_id": "NM_000170.2", "dbsnp_id": "rs998158526", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI734" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1624/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1624/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1624/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1624/gene/?format=api" }, "data": { "type": "Gene", "id": "GLDC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1624/?format=api" } }, { "type": "SmallVariant", "id": "1635", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.003699, "gnomad_AFR_maf": 0.0004921, "gnomad_AMR_maf": 0.002689, "gnomad_ASJ_maf": 0.009524, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01016, "gnomad_NFE_maf": 0.003359, "gnomad_OTH_maf": 0.006845, "gnomad_SAS_maf": 0.002907, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.003256 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.283843, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6556242, "genomic_position_hg38": 6556242, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.382848", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2113G>A", "protein_change": "p.Val705Met", "transcript_id": "NM_000170.2", "dbsnp_id": "rs147275962", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI740" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1635/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1635/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1635/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1635/gene/?format=api" }, "data": { "type": "Gene", "id": "GLDC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1635/?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 } }