Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PCSK9/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "992", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0266, "KGP_genomes_AFR_maf": 0.0961, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.007194, "gnomad_AFR_maf": 0.09771, "gnomad_AMR_maf": 0.004081, "gnomad_ASJ_maf": 0.002692, "gnomad_EAS_maf": 0.0007629, "gnomad_FIN_maf": 4.624e-05, "gnomad_NFE_maf": 0.0002844, "gnomad_OTH_maf": 0.00246, "gnomad_SAS_maf": 9.801e-05, "ESP_AA_maf": 0.08375, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.03395, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55523855, "genomic_position_hg38": 55058182, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.462146", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1327G>A", "protein_change": "p.Ala443Thr", "transcript_id": "NM_174936.3", "dbsnp_id": "rs28362263", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI463" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/992/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/992/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/992/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/992/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/992/?format=api" } }, { "type": "SmallVariant", "id": "1064", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0064, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0209, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01193, "gnomad_AFR_maf": 0.002422, "gnomad_AMR_maf": 0.00644, "gnomad_ASJ_maf": 0.004645, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.04172, "gnomad_NFE_maf": 0.01509, "gnomad_OTH_maf": 0.01284, "gnomad_SAS_maf": 0.001158, "ESP_AA_maf": 0.002973, "ESP_EA_maf": 0.01335 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.364413, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55505647, "genomic_position_hg38": 55039974, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.906033", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.137G>T", "protein_change": "p.Arg46Leu", "transcript_id": "NM_174936.3", "dbsnp_id": "rs11591147", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI500" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1064/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1064/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1064/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1064/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1064/?format=api" } }, { "type": "SmallVariant", "id": "1801", "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": 2.75e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002997, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 4.121e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.562331, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 55505604, "genomic_position_hg38": 55039931, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.378648", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.94G>A", "protein_change": "p.Glu32Lys", "transcript_id": "NM_174936.3", "dbsnp_id": "rs564427867", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI817" }, { "type": "Combination", "id": "OLI819" }, { "type": "Combination", "id": "OLI820" }, { "type": "Combination", "id": "OLI821" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1801/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1801/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1801/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1801/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1801/?format=api" } }, { "type": "SmallVariant", "id": "1802", "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": 0.00014, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001829, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": "Benign", "cadd_prediction": 0.706538, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 55505520, "genomic_position_hg38": 55039847, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.385165", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.10G>A", "protein_change": "p.Val4Ile", "transcript_id": "NM_174936.3", "dbsnp_id": "rs186669805", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI818" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1802/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1802/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1802/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1802/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1802/?format=api" } }, { "type": "SmallVariant", "id": "2582", "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": 2.397e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002723, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": "Benign", "cadd_prediction": -0.881777, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55529182, "genomic_position_hg38": 55063509, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.984494", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2004C>A", "protein_change": "p.Ser668Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1215" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2582/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2582/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2582/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2582/gene/?format=api" }, "data": { "type": "Gene", "id": "PCSK9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2582/?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) 2026 · 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 } }