Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NR0B1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2397", "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": "Possibly Damaging", "cadd_prediction": 0.914057, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30326410, "genomic_position_hg38": 30308293, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.020681", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1071G>T", "protein_change": "p.Gln357His", "transcript_id": "NM_000475.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1107" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2397/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2397/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2397/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2397/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2397/?format=api" } }, { "type": "SmallVariant", "id": "2516", "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": 1.946151, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30327038, "genomic_position_hg38": 30308921, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.715356", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.443G>A", "protein_change": "p.Ser148Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1171" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2516/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2516/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2516/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2516/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2516/?format=api" } }, { "type": "SmallVariant", "id": "2852", "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": 0.0001011, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001101, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.556e-05, "gnomad_OTH_maf": 0.0002262, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.890909, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30327102, "genomic_position_hg38": 30308985, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.634963", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.379G>A", "protein_change": "p.Ala127Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1355" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2852/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2852/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2852/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2852/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2852/?format=api" } }, { "type": "SmallVariant", "id": "2981", "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": 2.724e-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": 4.88e-05, "gnomad_OTH_maf": 0.0002206, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.725298, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30322856, "genomic_position_hg38": 30304739, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.402761", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1253C>T", "protein_change": "p.Thr418Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1418" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2981/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2981/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2981/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2981/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2981/?format=api" } }, { "type": "SmallVariant", "id": "3263", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0026, "KGP_genomes_SAS_maf": 0.0014, "gnomad_maf": 0.001189, "gnomad_AFR_maf": 0.0002945, "gnomad_AMR_maf": 0.0007585, "gnomad_ASJ_maf": 0.003401, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005604, "gnomad_NFE_maf": 0.001541, "gnomad_OTH_maf": 0.001501, "gnomad_SAS_maf": 0.001201, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.808748, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30327465, "genomic_position_hg38": 30309348, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.063719", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.16C>A", "protein_change": "p.His6Asn", "transcript_id": "NM_000475", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1553" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3263/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3263/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3263/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3263/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3263/?format=api" } }, { "type": "SmallVariant", "id": "3304", "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": 5.787e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001497, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.992e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.240751, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30326502, "genomic_position_hg38": 30308385, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.314094", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.979G>A", "protein_change": "p.Glu327Lys", "transcript_id": "NM_000475", "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/3304/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3304/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3304/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3304/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3304/?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 } }