Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DCHS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1501", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003553, "gnomad_AFR_maf": 0.0009847, "gnomad_AMR_maf": 0.003472, "gnomad_ASJ_maf": 0.0005968, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002082, "gnomad_NFE_maf": 0.00588, "gnomad_OTH_maf": 0.006044, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0009087, "ESP_EA_maf": 0.006867 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.990363, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6653585, "genomic_position_hg38": 6632354, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.544773", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3158G>C", "protein_change": "p.Trp1053Ser", "transcript_id": "NM_003737.3", "dbsnp_id": "rs138340204", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI692" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1501/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1501/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1501/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1501/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1501/?format=api" } }, { "type": "SmallVariant", "id": "1513", "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": 0.002503, "gnomad_AFR_maf": 0.0003108, "gnomad_AMR_maf": 0.0008157, "gnomad_ASJ_maf": 0.005217, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.00713, "gnomad_NFE_maf": 0.003861, "gnomad_OTH_maf": 0.002399, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001393 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.070412, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6651953, "genomic_position_hg38": 6630722, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.616849", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4072G>A", "protein_change": "p.Glu1358Lys", "transcript_id": "NM_003737.3", "dbsnp_id": "rs184586428", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI697" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1513/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1513/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1513/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1513/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1513/?format=api" } }, { "type": "SmallVariant", "id": "1527", "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": 7.997e-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": 1.775e-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": "Benign", "cadd_prediction": 2.59957, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6648404, "genomic_position_hg38": 6627173, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.702713", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5866C>T", "protein_change": "p.His1956Tyr", "transcript_id": "NM_003737.3", "dbsnp_id": "rs755681858", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI701" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1527/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1527/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1527/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1527/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1527/?format=api" } }, { "type": "SmallVariant", "id": "1545", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.379e-05, "gnomad_AFR_maf": 7.822e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001936, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001605, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.623e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.305052, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6645523, "genomic_position_hg38": 6624292, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.815662", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7384C>T", "protein_change": "p.Arg2462Trp", "transcript_id": "NM_003737.3", "dbsnp_id": "rs202186111", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI707" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1545/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1545/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1545/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1545/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1545/?format=api" } }, { "type": "SmallVariant", "id": "1634", "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": 1.202e-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": 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": 2.474632, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 6651040, "genomic_position_hg38": 6629809, "chromosome": "11", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:50.376487", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4898A>G", "protein_change": "p.Gln1633Arg", "transcript_id": "NM_003737.3", "dbsnp_id": "rs772857722", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI740" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1634/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1634/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1634/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1634/gene/?format=api" }, "data": { "type": "Gene", "id": "DCHS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1634/?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 } }