Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/IGSF10/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1161", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003978, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.783e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0006468, "gnomad_NFE_maf": 0.0002639, "gnomad_OTH_maf": 0.0003259, "gnomad_SAS_maf": 0.001666, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.832034, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151161258, "genomic_position_hg38": 151443470, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.504369", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5477G>A", "protein_change": "p.Gly1862Asp", "transcript_id": "NM_178822.4", "dbsnp_id": "rs147801336", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI556" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1161/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1161/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1161/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1161/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1161/?format=api" } }, { "type": "SmallVariant", "id": "1413", "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": 4.378e-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": 9.685e-05, "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": 0.676294, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151166581, "genomic_position_hg38": 151448793, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.976801", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1188A>C", "protein_change": "p.Glu396Asp", "transcript_id": "NM_178822.4", "dbsnp_id": "rs768345493", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI649" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1413/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1413/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1413/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1413/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1413/?format=api" } }, { "type": "SmallVariant", "id": "2611", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 6.575e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.000203, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.557e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 8.008e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.697859, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 151171535, "genomic_position_hg38": 151453747, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.157617", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.352C>T", "protein_change": "p.Arg118Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1233" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2611/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2611/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2611/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2611/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2611/?format=api" } }, { "type": "SmallVariant", "id": "2911", "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": 3.978e-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": 8.797e-06, "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": 0.09508, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151165983, "genomic_position_hg38": 151448195, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.976729", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1786C>T", "protein_change": "p.His596Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1387" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2911/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2911/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2911/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2911/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2911/?format=api" } }, { "type": "SmallVariant", "id": "2930", "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": 0.0001591, "gnomad_AFR_maf": 0.0009843, "gnomad_AMR_maf": 0.0002891, "gnomad_ASJ_maf": 0.0002977, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.62e-05, "gnomad_NFE_maf": 7.033e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.045478, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 151163138, "genomic_position_hg38": 151445350, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.091818", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4631C>T", "protein_change": "p.Ser1544Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1395" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2930/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2930/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2930/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2930/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2930/?format=api" } }, { "type": "SmallVariant", "id": "2960", "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": 7.742e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.968e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001167, "gnomad_OTH_maf": 0.0001676, "gnomad_SAS_maf": 6.815e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.818526, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 151154496, "genomic_position_hg38": 151436708, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.274166", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7853C>T", "protein_change": "p.Thr2618Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1408" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2960/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2960/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2960/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2960/gene/?format=api" }, "data": { "type": "Gene", "id": "IGSF10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2960/?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": 6 } }