Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1578/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3192", "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": 5.367e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002119, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.664e-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": "Possibly Damaging", "cadd_prediction": 2.129275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149680919, "genomic_position_hg38": 150512649, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.631953", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2573C>T", "protein_change": "p.Pro858Leu", "transcript_id": "NM_001177465", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1522" }, { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3192/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3192/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3192/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3192/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3192/?format=api" } }, { "type": "SmallVariant", "id": "3328", "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": "Possibly Damaging", "cadd_prediction": 3.958571, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 115258747, "genomic_position_hg38": 114716126, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.459831", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.35G>C", "protein_change": "p.Gly12Ala", "transcript_id": "NM_002524", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3328/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3328/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3328/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3328/gene/?format=api" }, "data": { "type": "Gene", "id": "NRAS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3328/?format=api" } }, { "type": "SmallVariant", "id": "3329", "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": 3.976e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.156892, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155604540, "genomic_position_hg38": 155811846, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.466094", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.277G>A", "protein_change": "p.Gly93Arg", "transcript_id": "NM_000193", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3329/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3329/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3329/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3329/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3329/?format=api" } }, { "type": "SmallVariant", "id": "3251", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003859, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0007516, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.0004839, "gnomad_OTH_maf": 0.001794, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.378947, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32332484, "genomic_position_hg38": 31758347, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.994733", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.184G>A", "protein_change": "p.Ala62Thr", "transcript_id": "NM_130806", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1547" }, { "type": "Combination", "id": "OLI1548" }, { "type": "Combination", "id": "OLI1578" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3251/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3251/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3251/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3251/gene/?format=api" }, "data": { "type": "Gene", "id": "RXFP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3251/?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 } }