Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI733/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1530", "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": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001527, "gnomad_AFR_maf": 0.0006158, "gnomad_AMR_maf": 0.0006938, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001617, "gnomad_NFE_maf": 0.002638, "gnomad_OTH_maf": 0.001142, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.003023 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.536534, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27106106, "genomic_position_hg38": 26779615, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.721228", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5717G>A", "protein_change": "p.Arg1906Gln", "transcript_id": "NM_006015.4", "dbsnp_id": "rs41303631", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI702" }, { "type": "Combination", "id": "OLI733" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1530/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1530/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1530/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1530/gene/?format=api" }, "data": { "type": "Gene", "id": "ARID1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1530/?format=api" } }, { "type": "SmallVariant", "id": "1620", "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": 6.368e-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": 7.057e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0002008, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.988367, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 37050297, "genomic_position_hg38": 36581092, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.286078", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.530A>G", "protein_change": "p.Asp177Gly", "transcript_id": "NM_014360.4", "dbsnp_id": "rs961687335", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI733" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1620/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1620/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1620/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1620/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1620/?format=api" } }, { "type": "SmallVariant", "id": "1621", "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": 1.194e-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": 2.64e-05, "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": 4.217342, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 195969442, "genomic_position_hg38": 196242571, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.292444", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.556A>G", "protein_change": "p.Lys186Glu", "transcript_id": "NM_001312673.1", "dbsnp_id": "rs773571578", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI733" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1621/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1621/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1621/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1621/gene/?format=api" }, "data": { "type": "Gene", "id": "PCYT1A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1621/?format=api" } }, { "type": "SmallVariant", "id": "1622", "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": 1.992e-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": 3.529e-05, "gnomad_OTH_maf": 0.0001637, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.346314, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 47162995, "genomic_position_hg38": 47121505, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.298817", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3131G>A", "protein_change": "p.Ser1044Asn", "transcript_id": "NM_014159.6", "dbsnp_id": "rs587778673", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI733" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1622/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1622/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1622/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1622/gene/?format=api" }, "data": { "type": "Gene", "id": "SETD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1622/?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 } }