Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PNPLA6/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1794", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.604159, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 7605837, "genomic_position_hg38": 7540951, "chromosome": "19", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.339549", "ref_allele": "CTGCCCGGG", "alt_allele": "ACCGTGT", "cdna_change": "c.851_859delCTGCCCGGGinsACCGTGT", "protein_change": "p.Ser284TyrfsTer56", "transcript_id": "NM_001166111.2", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI814" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1794/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1794/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1794/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1794/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1794/?format=api" } }, { "type": "SmallVariant", "id": "1855", "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": 8.117e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.492e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.015e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001171 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.827233, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7607555, "genomic_position_hg38": 7542669, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.722916", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1244G>A", "protein_change": "p.Arg415Gln", "transcript_id": "NM_006702.5", "dbsnp_id": "rs370626406", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI848" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1855/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1855/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1855/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1855/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1855/?format=api" } }, { "type": "SmallVariant", "id": "2773", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.663674, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7619130, "genomic_position_hg38": 7554244, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.155838", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2467G>A", "protein_change": "p.Ala823Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1323" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2773/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2773/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2773/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2773/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2773/?format=api" } }, { "type": "SmallVariant", "id": "2918", "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": 5.768e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 6.502e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001102, "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": 1.088342, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7606498, "genomic_position_hg38": 7541612, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.019107", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1123G>C", "protein_change": "p.Ala375Pro", "transcript_id": "NM_001166111.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1390" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2918/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2918/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2918/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2918/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2918/?format=api" } }, { "type": "SmallVariant", "id": "2939", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.380245, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7606872, "genomic_position_hg38": 7541986, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.146666", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1198G>A", "protein_change": "p.Asp400Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1400" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2939/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2939/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2939/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2939/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2939/?format=api" } }, { "type": "SmallVariant", "id": "2968", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.004748, "gnomad_AFR_maf": 0.001648, "gnomad_AMR_maf": 0.002431, "gnomad_ASJ_maf": 0.00201, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004629, "gnomad_NFE_maf": 0.008173, "gnomad_OTH_maf": 0.004793, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.648132, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7607741, "genomic_position_hg38": 7542855, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.322682", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1484C>T", "protein_change": "p.Pro495Leu", "transcript_id": "NM_001166111.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1411" }, { "type": "Combination", "id": "OLI1421" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2968/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2968/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2968/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2968/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2968/?format=api" } }, { "type": "SmallVariant", "id": "2972", "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": 0.005052, "gnomad_AFR_maf": 0.00167, "gnomad_AMR_maf": 0.002861, "gnomad_ASJ_maf": 0.003441, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.008799, "gnomad_NFE_maf": 0.007954, "gnomad_OTH_maf": 0.004603, "gnomad_SAS_maf": 0.0002785, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.106544, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7626428, "genomic_position_hg38": 7561542, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.347339", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4108G>A", "protein_change": "p.Gly1370Ser", "transcript_id": "NM_001166111.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1413" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2972/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2972/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2972/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2972/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2972/?format=api" } }, { "type": "SmallVariant", "id": "2979", "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": 0.00175, "gnomad_AFR_maf": 0.0006154, "gnomad_AMR_maf": 0.0009832, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0008317, "gnomad_NFE_maf": 0.002789, "gnomad_OTH_maf": 0.002445, "gnomad_SAS_maf": 0.001502, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.491665, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7618859, "genomic_position_hg38": 7553973, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.390556", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2389G>A", "protein_change": "p.Val797Met", "transcript_id": "NM_001166111.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1417" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2979/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2979/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2979/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2979/gene/?format=api" }, "data": { "type": "Gene", "id": "PNPLA6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2979/?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 } }