Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ANG/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "532", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.001185, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.001767, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 0.002809, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.002558 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.413155, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21161845, "genomic_position_hg38": 20693686, "chromosome": "14", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:43.653599", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.122A>T", "protein_change": "p.Lys41Ile", "transcript_id": "NM_001145.4", "dbsnp_id": "rs121909536", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI274" }, { "type": "Combination", "id": "OLI637" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/532/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/532/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/532/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/532/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/532/?format=api" } }, { "type": "SmallVariant", "id": "542", "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": 1.59e-05, "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": 2.637e-05, "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": 2.981738, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 21162130, "genomic_position_hg38": 20693971, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.705358", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.407C>T", "protein_change": "p.Pro136Leu", "transcript_id": "NM_001097577.2", "dbsnp_id": "rs121909543", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI280" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/542/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/542/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/542/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/542/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/542/?format=api" } }, { "type": "SmallVariant", "id": "681", "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": 0.000175, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001848, "gnomad_NFE_maf": 0.000334, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.309529, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21161955, "genomic_position_hg38": 20693796, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.539826", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.232A>G", "protein_change": "p.Lys78Glu", "transcript_id": "NM_001097577.2", "dbsnp_id": "rs141055235", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI773" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/681/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/681/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/681/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/681/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/681/?format=api" } }, { "type": "SmallVariant", "id": "1382", "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": 0.0007316, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0005952, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001755, "gnomad_NFE_maf": 0.0009669, "gnomad_OTH_maf": 0.0009772, "gnomad_SAS_maf": 0.0004573, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0005814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.036482, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21161931, "genomic_position_hg38": 20693772, "chromosome": "14", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.763392", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.208A>G", "protein_change": "p.Ile70Val", "transcript_id": "NM_001145.4", "dbsnp_id": "rs121909541", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI638" }, { "type": "Combination", "id": "OLI666" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1382/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1382/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1382/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1382/gene/?format=api" }, "data": { "type": "Gene", "id": "ANG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1382/?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 } }