Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ALS2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1706", "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": 1.202e-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": 2.649e-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": 1.966518, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 202611327, "genomic_position_hg38": 201746604, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.820653", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Ser654Gly", "transcript_id": null, "dbsnp_id": "rs61757690", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI772" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1706/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1706/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1706/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1706/gene/?format=api" }, "data": { "type": "Gene", "id": "ALS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1706/?format=api" } }, { "type": "SmallVariant", "id": "1713", "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": 5.216e-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": 0.0001151, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003655 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.983401, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 202580536, "genomic_position_hg38": 201715813, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.864290", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Pro1288Leu", "transcript_id": null, "dbsnp_id": "rs376835062", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI778" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1713/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1713/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1713/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1713/gene/?format=api" }, "data": { "type": "Gene", "id": "ALS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1713/?format=api" } }, { "type": "SmallVariant", "id": "2064", "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": 3.872203, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 202622404, "genomic_position_hg38": 201757681, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.006305", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1192T>C", "protein_change": "p.Ser398Pro", "transcript_id": "NM_020919", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI955" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2064/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2064/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2064/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2064/gene/?format=api" }, "data": { "type": "Gene", "id": "ALS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2064/?format=api" } }, { "type": "SmallVariant", "id": "3611", "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": 1.202e-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": 1.766e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.358551, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 202609062, "genomic_position_hg38": 201744339, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.888022", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Glu697Lys", "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/3611/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3611/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3611/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3611/gene/?format=api" }, "data": { "type": "Gene", "id": "ALS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3611/?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": 4 } }