Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI334/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": "690", "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": 2.169e-05, "gnomad_AFR_maf": 7.105e-05, "gnomad_AMR_maf": 5.84e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.35e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.293e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.577967, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1259359, "genomic_position_hg38": 1209359, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.597761", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3691C>T", "protein_change": "p.Arg1231Cys", "transcript_id": "NM_021098.2", "dbsnp_id": "rs781510850", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI334" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/690/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/690/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/690/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/690/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1H" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/690/?format=api" } }, { "type": "SmallVariant", "id": "691", "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": 3.182e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.157e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002275, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.764849, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44876255, "genomic_position_hg38": 44584057, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.604177", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5623C>T", "protein_change": "p.Gln1875Ter", "transcript_id": "NM_025137.3", "dbsnp_id": "rs141848292", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI334" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/691/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/691/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/691/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/691/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/691/?format=api" } }, { "type": "SmallVariant", "id": "692", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0013, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003767, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 7.292e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0006872, "gnomad_NFE_maf": 0.0006729, "gnomad_OTH_maf": 0.0002215, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004462 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.316678, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 77225057, "genomic_position_hg38": 77969560, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.610446", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.79G>A", "protein_change": "p.Asp27Asn", "transcript_id": "NM_001029891.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI334" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/692/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/692/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/692/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/692/gene/?format=api" }, "data": { "type": "Gene", "id": "PGAM4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/692/?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 } }