Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SPG7/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2471", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.002923, "gnomad_AFR_maf": 0.00123, "gnomad_AMR_maf": 0.002081, "gnomad_ASJ_maf": 0.001885, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001063, "gnomad_NFE_maf": 0.004949, "gnomad_OTH_maf": 0.002443, "gnomad_SAS_maf": 0.0007512, "ESP_AA_maf": 0.001365, "ESP_EA_maf": 0.004535 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.011623, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89613145, "genomic_position_hg38": 89546737, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.451978", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1529C>T", "protein_change": "p.Ala510Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1147" }, { "type": "Combination", "id": "OLI1148" }, { "type": "Combination", "id": "OLI1152" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2471/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2471/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2471/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2471/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2471/?format=api" } }, { "type": "SmallVariant", "id": "2474", "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": 1.99e-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": 4.403e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.56258, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89623406, "genomic_position_hg38": 89556998, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.469698", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2293G>A", "protein_change": "p.Asp765Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1149" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2474/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2474/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2474/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2474/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2474/?format=api" } }, { "type": "SmallVariant", "id": "2476", "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": 3.585e-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": 6.174e-05, "gnomad_OTH_maf": 0.0003265, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.651709, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89619403, "genomic_position_hg38": 89552995, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.475724", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1796G>T", "protein_change": "p.Arg599Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1150" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2476/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2476/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2476/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2476/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2476/?format=api" } }, { "type": "SmallVariant", "id": "2479", "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": 8.728e-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": 2.017e-05, "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": 5.358319, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89579446, "genomic_position_hg38": 89513038, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.493296", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.376+1G>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1151" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2479/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2479/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2479/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2479/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2479/?format=api" } }, { "type": "SmallVariant", "id": "2482", "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": 1.218e-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": 2.676e-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": 1.239829, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89620936, "genomic_position_hg38": 89554528, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.510841", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2146A>G", "protein_change": "p.Lys716Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1153" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2482/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2482/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2482/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2482/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2482/?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": 5 } }