Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SPG11/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "515", "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": 8.798e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.936959, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44865850, "genomic_position_hg38": 44573652, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.562020", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6100C>T", "protein_change": "p.Arg2034Ter", "transcript_id": "NM_025137.3", "dbsnp_id": "rs118203963", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/515/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/515/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/515/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/515/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/515/?format=api" } }, { "type": "SmallVariant", "id": "691", "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": 3.182e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.157e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002275, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.764849, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44876255, "genomic_position_hg38": 44584057, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.604177", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5623C>T", "protein_change": "p.Gln1875Ter", "transcript_id": "NM_025137.3", "dbsnp_id": "rs141848292", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI334" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/691/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/691/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/691/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/691/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/691/?format=api" } }, { "type": "SmallVariant", "id": "1377", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002954, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.004828, "gnomad_ASJ_maf": 0.005159, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0003695, "gnomad_NFE_maf": 0.004096, "gnomad_OTH_maf": 0.00391, "gnomad_SAS_maf": 0.0003593, "ESP_AA_maf": 0.0009099, "ESP_EA_maf": 0.005002 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.264544, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44865000, "genomic_position_hg38": 44572802, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.734415", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.6224A>G", "protein_change": "p.Asn2075Ser", "transcript_id": "NM_025137.3", "dbsnp_id": "rs140824939", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI632" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1377/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1377/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1377/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1377/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1377/?format=api" } }, { "type": "SmallVariant", "id": "2042", "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": 3.567132, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44888995, "genomic_position_hg38": 44596797, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.875430", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4148A>G", "protein_change": "p.Tyr1383Cys", "transcript_id": "NM_001160227", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI944" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2042/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2042/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2042/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2042/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2042/?format=api" } }, { "type": "SmallVariant", "id": "2043", "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": 3.79518, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44877904, "genomic_position_hg38": 44585706, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.881737", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5051G>A", "protein_change": "p.Gly1684Glu", "transcript_id": "NM_001160227", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI944" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2043/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2043/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2043/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2043/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2043/?format=api" } }, { "type": "SmallVariant", "id": "2091", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001402, "gnomad_AFR_maf": 0.0001242, "gnomad_AMR_maf": 0.001793, "gnomad_ASJ_maf": 0.009627, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.001479, "gnomad_OTH_maf": 0.002624, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.0006824, "ESP_EA_maf": 0.00221 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.700847, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44856827, "genomic_position_hg38": 44564629, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.156977", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Leu2357Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI967" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2091/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2091/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2091/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2091/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2091/?format=api" } }, { "type": "SmallVariant", "id": "2097", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0034, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.01286, "gnomad_AFR_maf": 0.002036, "gnomad_AMR_maf": 0.003418, "gnomad_ASJ_maf": 0.01202, "gnomad_EAS_maf": 5.441e-05, "gnomad_FIN_maf": 0.04487, "gnomad_NFE_maf": 0.01612, "gnomad_OTH_maf": 0.01196, "gnomad_SAS_maf": 0.002655, "ESP_AA_maf": 0.002957, "ESP_EA_maf": 0.01315 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.88272, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44918690, "genomic_position_hg38": 44626492, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.194727", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2083G>A", "protein_change": "p.Ala695Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI969" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2097/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2097/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2097/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2097/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2097/?format=api" } }, { "type": "SmallVariant", "id": "2098", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0056, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0159, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.01707, "gnomad_AFR_maf": 0.003084, "gnomad_AMR_maf": 0.007174, "gnomad_ASJ_maf": 0.02447, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.04449, "gnomad_NFE_maf": 0.02188, "gnomad_OTH_maf": 0.01915, "gnomad_SAS_maf": 0.005886, "ESP_AA_maf": 0.003412, "ESP_EA_maf": 0.02036 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.226598, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44944037, "genomic_position_hg38": 44651839, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.200998", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1108G>A", "protein_change": "p.Glu370Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI969" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2098/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2098/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2098/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2098/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2098/?format=api" } }, { "type": "SmallVariant", "id": "3062", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001235, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0005204, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.056e-05, "gnomad_OTH_maf": 0.0008159, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.663746, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44888350, "genomic_position_hg38": 44596152, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.871768", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.4365G>C", "protein_change": "p.Trp1455Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1459" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3062/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3062/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3062/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3062/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3062/?format=api" } }, { "type": "SmallVariant", "id": "3612", "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": 2.39e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003267, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 4.092438, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44876677, "genomic_position_hg38": 44584479, "chromosome": "15", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.904096", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Cys1734Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1704" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3612/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3612/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3612/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3612/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3612/?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 } }