Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ALDH1L1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1496", "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": 5.968e-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": 0.0001143, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.659045, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 125828928, "genomic_position_hg38": 126110085, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:49.514525", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2236G>A", "protein_change": "p.Val746Met", "transcript_id": "NM_001270364.2", "dbsnp_id": "rs145725373", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI690" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1496/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1496/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1496/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1496/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH1L1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1496/?format=api" } }, { "type": "SmallVariant", "id": "1505", "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": 2.308956, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 125828823, "genomic_position_hg38": 126109980, "chromosome": "3", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:49.568856", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.2341A>C", "protein_change": "p.Thr781Pro", "transcript_id": "NM_001270364.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI694" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1505/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1505/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1505/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1505/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH1L1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1505/?format=api" } }, { "type": "SmallVariant", "id": "1508", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 4.068e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.935e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001647, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.695e-05, "gnomad_OTH_maf": 0.0003312, "gnomad_SAS_maf": 3.386e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.358782, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 125855674, "genomic_position_hg38": 126136831, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:49.587000", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1307T>C", "protein_change": "p.Ile436Thr", "transcript_id": "NM_001270364.2", "dbsnp_id": "rs183204130", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI696" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1508/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1508/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1508/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1508/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH1L1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1508/?format=api" } }, { "type": "SmallVariant", "id": "1534", "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": 3.977e-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": 8.791e-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": 3.290786, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 125828898, "genomic_position_hg38": 126110055, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:49.746508", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2266C>G", "protein_change": "p.His756Asp", "transcript_id": "NM_001270364.2", "dbsnp_id": "rs775766256", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI703" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1534/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1534/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1534/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1534/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH1L1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1534/?format=api" } }, { "type": "SmallVariant", "id": "1638", "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": 0.0004136, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0008, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.921164, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 125824595, "genomic_position_hg38": 126105752, "chromosome": "3", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:50.402313", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2657A>G", "protein_change": "p.Lys886Arg", "transcript_id": "NM_012190.3", "dbsnp_id": "rs142086991", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI741" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1638/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1638/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1638/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1638/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH1L1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1638/?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 } }