Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SRA1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "35", "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": 0.0008415, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0007227, "gnomad_ASJ_maf": 0.009331, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006705, "gnomad_OTH_maf": 0.002121, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.888231, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139930460, "genomic_position_hg38": 140550875, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.725343", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.536T>C", "protein_change": "p.Ile179Thr", "transcript_id": "NM_001035235.3", "dbsnp_id": "rs148108594", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI018" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/35/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/35/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/35/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/35/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/35/?format=api" } }, { "type": "SmallVariant", "id": "1211", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0061, "gnomad_maf": 0.007148, "gnomad_AFR_maf": 0.001952, "gnomad_AMR_maf": 0.002635, "gnomad_ASJ_maf": 0.01888, "gnomad_EAS_maf": 5.478e-05, "gnomad_FIN_maf": 0.009302, "gnomad_NFE_maf": 0.008897, "gnomad_OTH_maf": 0.008578, "gnomad_SAS_maf": 0.007093, "ESP_AA_maf": 0.001591, "ESP_EA_maf": 0.0071 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.871297, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139936825, "genomic_position_hg38": 140557240, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.801036", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.94C>G", "protein_change": "p.Gln32Glu", "transcript_id": "NM_001035235.3", "dbsnp_id": "rs35610885", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI574" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1211/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1211/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1211/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1211/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1211/?format=api" } }, { "type": "SmallVariant", "id": "1424", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.529689, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139931767, "genomic_position_hg38": 140552182, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.050840", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.190C>A", "protein_change": "p.Pro64Thr", "transcript_id": "NM_001035235.3", "dbsnp_id": "rs762256653", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI654" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1424/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1424/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1424/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1424/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1424/?format=api" } }, { "type": "SmallVariant", "id": "2777", "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": 0.213735, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139936789, "genomic_position_hg38": 140557204, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.180108", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.94C>G", "protein_change": "p.Gln32Glu", "transcript_id": "NM_001035235.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2777/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2777/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2777/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2777/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2777/?format=api" } }, { "type": "SmallVariant", "id": "3299", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.09726, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139930424, "genomic_position_hg38": 140550839, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.283442", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.536T>C", "protein_change": "p.Ile179Thr", "transcript_id": "NM_001035235", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1565" }, { "type": "Combination", "id": "OLI1580" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3299/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3299/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3299/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3299/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3299/?format=api" } }, { "type": "SmallVariant", "id": "3301", "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": 1.999472, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139931703, "genomic_position_hg38": 140552118, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.295802", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.218C>T", "protein_change": "p.Pro73Leu", "transcript_id": "NM_001035235", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1566" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3301/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3301/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3301/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3301/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3301/?format=api" } }, { "type": "SmallVariant", "id": "3305", "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": 9.655e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.735e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001582, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001499, "gnomad_OTH_maf": 0.0002111, "gnomad_SAS_maf": 7.631e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.972382, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139937015, "genomic_position_hg38": 140557430, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.320085", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.59C>T", "protein_change": "p.Pro20Leu", "transcript_id": "NM_001035235.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1568" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3305/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3305/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3305/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3305/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3305/?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": 7 } }