Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MSH4/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2338", "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": 4.865126, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76333254, "genomic_position_hg38": 75867569, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.665809", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1286A>T", "protein_change": "p.Glu429Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1069" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2338/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2338/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2338/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2338/gene/?format=api" }, "data": { "type": "Gene", "id": "MSH4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2338/?format=api" } }, { "type": "SmallVariant", "id": "3660", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001604, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002178, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.324e-06, "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": "Possibly Damaging", "cadd_prediction": 3.266003, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76288167, "genomic_position_hg38": 75822482, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.563094", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1063A>G", "protein_change": "p.Ile355Val", "transcript_id": "NM_002440.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1723" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3660/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3660/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3660/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3660/gene/?format=api" }, "data": { "type": "Gene", "id": "MSH4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3660/?format=api" } }, { "type": "SmallVariant", "id": "3666", "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": 0.0, "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": 0.0, "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": 2.388032, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76347004, "genomic_position_hg38": 75881319, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.809502", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1855A>G", "protein_change": "p.Met619Val", "transcript_id": "NM_002440.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1726" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3666/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3666/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3666/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3666/gene/?format=api" }, "data": { "type": "Gene", "id": "MSH4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3666/?format=api" } }, { "type": "SmallVariant", "id": "3671", "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": 4.643e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 6.579e-05, "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": 4.335728, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76288129, "genomic_position_hg38": 75822444, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.095391", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1025C>T", "protein_change": "p.Thr342Ile", "transcript_id": "NM_002440.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1730" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3671/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3671/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3671/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3671/gene/?format=api" }, "data": { "type": "Gene", "id": "MSH4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3671/?format=api" } }, { "type": "SmallVariant", "id": "3672", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 6.109252, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76355047, "genomic_position_hg38": 75889362, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.108143", "ref_allele": "TGAAA", "alt_allele": "T", "cdna_change": "c.2220_2223del", "protein_change": "p.Met740fs", "transcript_id": "NM_002440.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1730" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3672/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3672/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3672/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3672/gene/?format=api" }, "data": { "type": "Gene", "id": "MSH4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3672/?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 } }