Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TYR/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "136", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 8.366e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000109, "gnomad_FIN_maf": 4.622e-05, "gnomad_NFE_maf": 0.0001234, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.806e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003489 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.314417, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88911351, "genomic_position_hg38": 89178183, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-12-19T09:06:35.474859", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.230G>A", "protein_change": "p.Arg77Gln", "transcript_id": "NM_000372.4", "dbsnp_id": "rs61753185", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI069" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/136/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/136/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/136/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/136/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/136/?format=api" } }, { "type": "SmallVariant", "id": "138", "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": 0.0001872, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 2.9e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001632, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.761e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.001274, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.692934, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88924382, "genomic_position_hg38": 89191214, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.335741", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.832C>T", "protein_change": "p.Arg278Ter", "transcript_id": "NM_000372.4", "dbsnp_id": "rs62645904", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI070" }, { "type": "Combination", "id": "OLI1099" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/138/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/138/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/138/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/138/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/138/?format=api" } }, { "type": "SmallVariant", "id": "141", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0813, "KGP_genomes_AFR_maf": 0.0091, "KGP_genomes_AMR_maf": 0.1254, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.2525, "KGP_genomes_SAS_maf": 0.0542, "gnomad_maf": 0.1764, "gnomad_AFR_maf": 0.04384, "gnomad_AMR_maf": 0.1024, "gnomad_ASJ_maf": 0.2383, "gnomad_EAS_maf": 5.439e-05, "gnomad_FIN_maf": 0.1641, "gnomad_NFE_maf": 0.2727, "gnomad_OTH_maf": 0.2075, "gnomad_SAS_maf": 0.06251, "ESP_AA_maf": 0.05066, "ESP_EA_maf": 0.2812 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.150334, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89017961, "genomic_position_hg38": 89284793, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.353651", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1205G>A", "protein_change": "p.Arg402Gln", "transcript_id": "NM_000372.4", "dbsnp_id": "rs1126809", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI072" }, { "type": "Combination", "id": "OLI217" }, { "type": "Combination", "id": "OLI398" }, { "type": "Combination", "id": "OLI399" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/141/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/141/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/141/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/141/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/141/?format=api" } }, { "type": "SmallVariant", "id": "143", "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": 2.387e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001631, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.799e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.78188, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88911467, "genomic_position_hg38": 89178299, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.365823", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.346C>T", "protein_change": "p.Arg116Ter", "transcript_id": "NM_000372.4", "dbsnp_id": "rs61753256", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI073" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/143/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/143/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/143/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/143/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/143/?format=api" } }, { "type": "SmallVariant", "id": "422", "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": 0.0001792, "gnomad_AFR_maf": 0.0001852, "gnomad_AMR_maf": 0.0005205, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002028, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.422306, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89028410, "genomic_position_hg38": 89295242, "chromosome": "11", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:43.003455", "ref_allele": "C", "alt_allele": "CT", "cdna_change": "c.1467dup", "protein_change": "p.Ala490CysfsTer20", "transcript_id": "NM_000372.5", "dbsnp_id": "rs61754399", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI217" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/422/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/422/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/422/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/422/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/422/?format=api" } }, { "type": "SmallVariant", "id": "428", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0009497, "gnomad_AFR_maf": 6.16e-05, "gnomad_AMR_maf": 0.0004366, "gnomad_ASJ_maf": 0.01524, "gnomad_EAS_maf": 0.0002731, "gnomad_FIN_maf": 4.802e-05, "gnomad_NFE_maf": 0.0003799, "gnomad_OTH_maf": 0.0028, "gnomad_SAS_maf": 6.551e-05, "ESP_AA_maf": 0.0002272, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.880702, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88960984, "genomic_position_hg38": 89227816, "chromosome": "11", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.035468", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1037-7T>A", "protein_change": null, "transcript_id": "NM_000372.4", "dbsnp_id": "rs61754381", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI220" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/428/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/428/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/428/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/428/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/428/?format=api" } }, { "type": "SmallVariant", "id": "2384", "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": 0.0001795, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002324, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001939, "gnomad_OTH_maf": 0.0001639, "gnomad_SAS_maf": 0.0003928, "ESP_AA_maf": 0.0002272, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.990325, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88911770, "genomic_position_hg38": 89178602, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.939588", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.649C>T", "protein_change": "p.Arg217Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1095" }, { "type": "Combination", "id": "OLI1096" }, { "type": "Combination", "id": "OLI1097" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2384/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2384/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2384/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2384/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2384/?format=api" } }, { "type": "SmallVariant", "id": "2386", "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": 6.389e-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": 3.537e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0003921, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.196354, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89018011, "genomic_position_hg38": 89284843, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.952088", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1255G>A", "protein_change": "p.Gly419Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1098" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2386/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2386/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2386/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2386/gene/?format=api" }, "data": { "type": "Gene", "id": "TYR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2386/?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 } }