Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI329/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "638", "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": 1.193e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 1.758e-05, "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": "Possibly Damaging", "cadd_prediction": 3.0021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33039600, "genomic_position_hg38": 31667287, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.253400", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala90Val", "transcript_id": null, "dbsnp_id": "rs1280042397", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI328" }, { "type": "Combination", "id": "OLI329" }, { "type": "Combination", "id": "OLI330" }, { "type": "Combination", "id": "OLI331" }, { "type": "Combination", "id": "OLI332" }, { "type": "Combination", "id": "OLI333" }, { "type": "Combination", "id": "OLI334" }, { "type": "Combination", "id": "OLI335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/638/gene/?format=api" }, "data": { "type": "Gene", "id": "SOD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/638/?format=api" } }, { "type": "SmallVariant", "id": "645", "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": 0.0002139, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.693e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000371, "gnomad_NFE_maf": 0.0003507, "gnomad_OTH_maf": 0.0004934, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001165 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.139184, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4544865, "genomic_position_hg38": 4641570, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.300091", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.82G>A", "protein_change": "p.Gly28Ser", "transcript_id": "NM_001140.3", "dbsnp_id": "rs147708465", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/645/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/645/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/645/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/645/gene/?format=api" }, "data": { "type": "Gene", "id": "ALOX15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/645/?format=api" } }, { "type": "SmallVariant", "id": "646", "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": 0.001129, "gnomad_AFR_maf": 0.0001677, "gnomad_AMR_maf": 0.0001549, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000408, "gnomad_NFE_maf": 0.002433, "gnomad_OTH_maf": 0.0002398, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002527 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.34997, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 66931295, "genomic_position_hg38": 67711453, "chromosome": "X", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.306699", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.341C>A", "protein_change": "p.Ala114Asp", "transcript_id": "NM_001011645.3", "dbsnp_id": "rs1800053", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/646/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/646/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/646/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/646/gene/?format=api" }, "data": { "type": "Gene", "id": "AR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/646/?format=api" } }, { "type": "SmallVariant", "id": "647", "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": 0.000374, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002633, "gnomad_NFE_maf": 0.0003079, "gnomad_OTH_maf": 0.0003261, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.059491, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 110864256, "genomic_position_hg38": 110211909, "chromosome": "13", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.313439", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.401C>T", "protein_change": "p.Pro134Leu", "transcript_id": "NM_001845.5", "dbsnp_id": "rs140517831", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/647/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/647/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/647/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/647/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/647/?format=api" } }, { "type": "SmallVariant", "id": "648", "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": 4.375e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001386, "gnomad_NFE_maf": 7.036e-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": 4.29764, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117402536, "genomic_position_hg38": 116964731, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.320110", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.712C>T", "protein_change": "p.Arg238Cys", "transcript_id": "NM_153348.2", "dbsnp_id": "rs202064358", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/648/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/648/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/648/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/648/gene/?format=api" }, "data": { "type": "Gene", "id": "FBXW8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/648/?format=api" } }, { "type": "SmallVariant", "id": "649", "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": 0.0001273, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004159, "gnomad_NFE_maf": 0.0001847, "gnomad_OTH_maf": 0.0003257, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.718005, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 69778883, "genomic_position_hg38": 69744980, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.326778", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.862T>A", "protein_change": "p.Cys288Ser", "transcript_id": "NM_014062.2", "dbsnp_id": "rs144374127", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/649/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/649/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/649/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/649/gene/?format=api" }, "data": { "type": "Gene", "id": "NOB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/649/?format=api" } }, { "type": "SmallVariant", "id": "650", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004068, "gnomad_AFR_maf": 0.0009174, "gnomad_AMR_maf": 0.002045, "gnomad_ASJ_maf": 0.007704, "gnomad_EAS_maf": 0.0001327, "gnomad_FIN_maf": 0.008237, "gnomad_NFE_maf": 0.005683, "gnomad_OTH_maf": 0.004677, "gnomad_SAS_maf": 0.0009415, "ESP_AA_maf": 0.0009103, "ESP_EA_maf": 0.005359 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.650463, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8905010, "genomic_position_hg38": 8811153, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.333325", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.422G>A", "protein_change": "p.Arg141His", "transcript_id": "NM_000303.2", "dbsnp_id": "rs28936415", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/650/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/650/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/650/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/650/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/650/?format=api" } }, { "type": "SmallVariant", "id": "651", "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": 0.001149, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0006944, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002541, "gnomad_NFE_maf": 0.001846, "gnomad_OTH_maf": 0.00114, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": 0.0002272, "ESP_EA_maf": 0.0005819 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.941029, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6640618, "genomic_position_hg38": 6619387, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.339841", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.14C>A", "protein_change": "p.Ala5Asp", "transcript_id": "NM_000391.4", "dbsnp_id": "rs138976576", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/651/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/651/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/651/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/651/gene/?format=api" }, "data": { "type": "Gene", "id": "TPP1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/651/?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": 8 } }