Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/HS6ST1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "783", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001662, "gnomad_AFR_maf": 6.82e-05, "gnomad_AMR_maf": 0.0001451, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001171, "gnomad_FIN_maf": 9.304e-05, "gnomad_NFE_maf": 3.584e-05, "gnomad_OTH_maf": 0.0003327, "gnomad_SAS_maf": 0.0001961, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.120499, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 129026247, "genomic_position_hg38": 128268673, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.187897", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Pro242Leu", "transcript_id": null, "dbsnp_id": "rs578226421", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI357" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/783/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/783/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/783/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/783/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/783/?format=api" } }, { "type": "SmallVariant", "id": "807", "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": 9.343e-05, "gnomad_AFR_maf": 0.0001323, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001119, "gnomad_FIN_maf": 4.704e-05, "gnomad_NFE_maf": 4.493e-05, "gnomad_OTH_maf": 0.0003346, "gnomad_SAS_maf": 0.0003617, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.250351, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129026056, "genomic_position_hg38": 128268482, "chromosome": "2", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.328988", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.916C>T", "protein_change": "p.Arg306Trp", "transcript_id": "NM_004807.3", "dbsnp_id": "rs780352591", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/807/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/807/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/807/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/807/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/807/?format=api" } }, { "type": "SmallVariant", "id": "853", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0072, "gnomad_maf": 0.00188, "gnomad_AFR_maf": 0.0005241, "gnomad_AMR_maf": 0.0009001, "gnomad_ASJ_maf": 0.003508, "gnomad_EAS_maf": 5.58e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004405, "gnomad_OTH_maf": 0.0005007, "gnomad_SAS_maf": 0.01103, "ESP_AA_maf": 0.0007314, "ESP_EA_maf": 0.0003578 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.709116, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129025828, "genomic_position_hg38": 128268254, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.607031", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1144C>T", "protein_change": "p.Arg382Trp", "transcript_id": "NM_004807.2", "dbsnp_id": "rs199538589", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI394" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/853/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/853/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/853/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/853/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/853/?format=api" } }, { "type": "SmallVariant", "id": "1415", "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": 0.004942, "gnomad_AFR_maf": 0.002781, "gnomad_AMR_maf": 0.01078, "gnomad_ASJ_maf": 0.002447, "gnomad_EAS_maf": 0.004749, "gnomad_FIN_maf": 0.005861, "gnomad_NFE_maf": 0.003234, "gnomad_OTH_maf": 0.0034, "gnomad_SAS_maf": 0.006387, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.806157, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 129075951, "genomic_position_hg38": 128318377, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.990241", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.187C>G", "protein_change": "p.His63Asp", "transcript_id": "NM_004807.2", "dbsnp_id": "rs61732017", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI650" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1415/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1415/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1415/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1415/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1415/?format=api" } }, { "type": "SmallVariant", "id": "2498", "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": 0.006245, "gnomad_AFR_maf": 0.002592, "gnomad_AMR_maf": 0.005312, "gnomad_ASJ_maf": 0.005221, "gnomad_EAS_maf": 5.595e-05, "gnomad_FIN_maf": 0.006343, "gnomad_NFE_maf": 0.008668, "gnomad_OTH_maf": 0.008766, "gnomad_SAS_maf": 0.004082, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.497261, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129075939, "genomic_position_hg38": 128318365, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.605985", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.199A>T", "protein_change": "p.Lys67Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1162" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2498/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2498/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2498/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2498/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2498/?format=api" } }, { "type": "SmallVariant", "id": "2670", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001828, "gnomad_AFR_maf": 0.0003904, "gnomad_AMR_maf": 0.0009273, "gnomad_ASJ_maf": 0.002888, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001113, "gnomad_NFE_maf": 0.003134, "gnomad_OTH_maf": 0.00182, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.631296, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129026320, "genomic_position_hg38": 128268746, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.530558", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.652C>T", "protein_change": "p.Pro218Ser", "transcript_id": "NM_004807.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1266" }, { "type": "Combination", "id": "OLI1600" }, { "type": "Combination", "id": "OLI1605" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2670/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2670/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2670/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2670/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2670/?format=api" } }, { "type": "SmallVariant", "id": "2779", "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": 0.0007057, "gnomad_AFR_maf": 0.000264, "gnomad_AMR_maf": 0.0005825, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.588e-05, "gnomad_FIN_maf": 9.397e-05, "gnomad_NFE_maf": 0.001175, "gnomad_OTH_maf": 0.001168, "gnomad_SAS_maf": 0.0002956, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.849744, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 129026055, "genomic_position_hg38": 128268481, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.192309", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.917G>A", "protein_change": "p.Arg306Gln", "transcript_id": "NM_004807.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1325" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2779/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2779/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2779/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2779/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2779/?format=api" } }, { "type": "SmallVariant", "id": "2839", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002386, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.731e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01218, "gnomad_FIN_maf": 0.01394, "gnomad_NFE_maf": 0.0003808, "gnomad_OTH_maf": 0.0008423, "gnomad_SAS_maf": 0.0006877, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.812059, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 129025795, "genomic_position_hg38": 128268221, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.553388", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1177G>A", "protein_change": "p.Asp393Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1346" }, { "type": "Combination", "id": "OLI1354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2839/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2839/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2839/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2839/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2839/?format=api" } }, { "type": "SmallVariant", "id": "2969", "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": 8.044e-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": 8.886e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.464945, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129026004, "genomic_position_hg38": 128268430, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.328859", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.968G>A", "protein_change": "p.Arg323Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1412" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2969/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2969/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2969/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2969/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2969/?format=api" } }, { "type": "SmallVariant", "id": "3267", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0072, "gnomad_maf": 0.00188, "gnomad_AFR_maf": 0.0005241, "gnomad_AMR_maf": 0.0009001, "gnomad_ASJ_maf": 0.003508, "gnomad_EAS_maf": 5.58e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004405, "gnomad_OTH_maf": 0.0005007, "gnomad_SAS_maf": 0.01103, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.709116, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129025828, "genomic_position_hg38": 128268254, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.088501", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1144C>T", "protein_change": "p.Arg382Trp", "transcript_id": "NM_004807", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1554" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3267/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3267/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3267/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3267/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3267/?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": 10 } }