Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI761/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1499", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0034, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004665, "gnomad_AFR_maf": 0.0008612, "gnomad_AMR_maf": 0.003556, "gnomad_ASJ_maf": 0.0002976, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01238, "gnomad_NFE_maf": 0.006357, "gnomad_OTH_maf": 0.005708, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.006047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.171235, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103002451, "genomic_position_hg38": 100240169, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.532809", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.725C>T", "protein_change": "p.Ser242Leu", "transcript_id": "NM_014425.4", "dbsnp_id": "rs2491097", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI691" }, { "type": "Combination", "id": "OLI736" }, { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1499/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1499/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1499/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1499/gene/?format=api" }, "data": { "type": "Gene", "id": "INVS" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1499/?format=api" } }, { "type": "SmallVariant", "id": "1571", "attributes": { "frequencies": { "KGP_genomes_maf": 0.9964, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.005282, "gnomad_AFR_maf": 0.001602, "gnomad_AMR_maf": 0.001893, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.459e-05, "gnomad_FIN_maf": 0.01072, "gnomad_NFE_maf": 0.007704, "gnomad_OTH_maf": 0.004939, "gnomad_SAS_maf": 0.003152, "ESP_AA_maf": 0.001641, "ESP_EA_maf": 0.00739 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.321915, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74702809, "genomic_position_hg38": 73837092, "chromosome": "4", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:49.979026", "ref_allele": "G", "alt_allele": "GT", "cdna_change": "c.239dup", "protein_change": "p.Val81GlyfsTer44", "transcript_id": null, "dbsnp_id": "rs564244632", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI716" }, { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1571/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1571/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1571/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1571/gene/?format=api" }, "data": { "type": "Gene", "id": "CXCL6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1571/?format=api" } }, { "type": "SmallVariant", "id": "1686", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.001391, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0008095, "gnomad_ASJ_maf": 0.0007938, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001424, "gnomad_NFE_maf": 0.001741, "gnomad_OTH_maf": 0.001141, "gnomad_SAS_maf": 0.003332, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001279 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.872045, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46564053, "genomic_position_hg38": 46542503, "chromosome": "11", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:50.706884", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1244G>A", "protein_change": "p.Arg415His", "transcript_id": "NM_001267782.2", "dbsnp_id": "rs145466300", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1686/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1686/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1686/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1686/gene/?format=api" }, "data": { "type": "Gene", "id": "AMBRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1686/?format=api" } }, { "type": "SmallVariant", "id": "1687", "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": 5.17e-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": 0.0001055, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.978401, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 32878442, "genomic_position_hg38": 34290636, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.713391", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.769T>C", "protein_change": "p.Tyr257His", "transcript_id": "NM_000687.3", "dbsnp_id": "rs140810436", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1687/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1687/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1687/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1687/gene/?format=api" }, "data": { "type": "Gene", "id": "AHCY" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1687/?format=api" } }, { "type": "SmallVariant", "id": "1688", "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": 0.0002479, "gnomad_AFR_maf": 6.185e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.247e-05, "gnomad_NFE_maf": 0.0004974, "gnomad_OTH_maf": 0.0003269, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.006867, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64142993, "genomic_position_hg38": 64157317, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.719801", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.445G>T", "protein_change": "p.Ala149Ser", "transcript_id": "NM_198859.3", "dbsnp_id": "rs202025796", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI761" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1688/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1688/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1688/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1688/gene/?format=api" }, "data": { "type": "Gene", "id": "PRICKLE2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1688/?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 } }