Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1041/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2257", "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": 2.066e-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": 4.565e-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": 2.888451, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33825550, "genomic_position_hg38": 33533349, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.170463", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.393C>A", "protein_change": "p.Asp131Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1041" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2257/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2257/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2257/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2257/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2257/?format=api" } }, { "type": "SmallVariant", "id": "2258", "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": 0.0001726, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005144, "gnomad_NFE_maf": 0.0002565, "gnomad_OTH_maf": 0.0003305, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000234 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.220915, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 124835217, "genomic_position_hg38": 124350671, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.176543", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3760C>T", "protein_change": "p.Arg1254Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1041" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2258/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2258/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2258/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2258/gene/?format=api" }, "data": { "type": "Gene", "id": "NCOR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2258/?format=api" } }, { "type": "SmallVariant", "id": "2259", "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": 0.000131, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001139, "gnomad_NFE_maf": 0.0002612, "gnomad_OTH_maf": 0.0001711, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.095534, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1025614, "genomic_position_hg38": 916448, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.182562", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.761C>T", "protein_change": "p.Thr254Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1041" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2259/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2259/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2259/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2259/gene/?format=api" }, "data": { "type": "Gene", "id": "RAD52" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2259/?format=api" } }, { "type": "SmallVariant", "id": "2260", "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.631475, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 119234520, "genomic_position_hg38": 118913355, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.188448", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.970G>T", "protein_change": "p.Val324Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1041" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2260/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2260/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2260/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2260/gene/?format=api" }, "data": { "type": "Gene", "id": "MCM9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2260/?format=api" } }, { "type": "SmallVariant", "id": "2261", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003056, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.004308, "gnomad_ASJ_maf": 0.0008932, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.003095, "gnomad_NFE_maf": 0.004288, "gnomad_OTH_maf": 0.003587, "gnomad_SAS_maf": 0.0004246, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.004302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.353771, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46726525, "genomic_position_hg38": 46260853, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.194516", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.604C>T", "protein_change": "p.Arg202Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1041" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2261/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2261/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2261/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2261/gene/?format=api" }, "data": { "type": "Gene", "id": "RAD54L" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2261/?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": 5 } }