Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PMM2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "650", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0036, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004068, "gnomad_AFR_maf": 0.0009174, "gnomad_AMR_maf": 0.002045, "gnomad_ASJ_maf": 0.007704, "gnomad_EAS_maf": 0.0001327, "gnomad_FIN_maf": 0.008237, "gnomad_NFE_maf": 0.005683, "gnomad_OTH_maf": 0.004677, "gnomad_SAS_maf": 0.0009415, "ESP_AA_maf": 0.0009103, "ESP_EA_maf": 0.005359 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.650463, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8905010, "genomic_position_hg38": 8811153, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.333325", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.422G>A", "protein_change": "p.Arg141His", "transcript_id": "NM_000303.2", "dbsnp_id": "rs28936415", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI329" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/650/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/650/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/650/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/650/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/650/?format=api" } }, { "type": "SmallVariant", "id": "1068", "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": 0.0001142, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001342, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001328, "gnomad_FIN_maf": 5.684e-05, "gnomad_NFE_maf": 0.0001909, "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": 4.622756, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8904956, "genomic_position_hg38": 8811099, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.931293", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.368G>A", "protein_change": "p.Arg123Gln", "transcript_id": "NM_000303.2", "dbsnp_id": "rs141498002", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI503" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1068/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1068/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1068/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1068/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1068/?format=api" } }, { "type": "SmallVariant", "id": "1069", "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": 5.12888, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8941581, "genomic_position_hg38": 8847724, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.937640", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.640G>A", "protein_change": "p.Gly214Ser", "transcript_id": "NM_000303.2", "dbsnp_id": "rs1555453238", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI503" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1069/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1069/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1069/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1069/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1069/?format=api" } }, { "type": "SmallVariant", "id": "1992", "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": 0.0001588, "gnomad_AFR_maf": 9.362e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003543, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 8.258e-05, "ESP_AA_maf": 0.0002276, "ESP_EA_maf": 0.0005832 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.57961, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8905030, "genomic_position_hg38": 8811173, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.568309", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.442G>A", "protein_change": "p.Asp148Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI923" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1992/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1992/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1992/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1992/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1992/?format=api" } }, { "type": "SmallVariant", "id": "3685", "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": 3.957916, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8904945, "genomic_position_hg38": 8811088, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.592035", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.357C>G", "protein_change": "p.Phe119Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1738" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3685/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3685/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3685/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3685/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3685/?format=api" } }, { "type": "SmallVariant", "id": "3686", "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": 0.0002944, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0002892, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0005366, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.08306, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8905517, "genomic_position_hg38": 8811660, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.604974", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.470T>C", "protein_change": "p.Phe157Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1738" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3686/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3686/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3686/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3686/gene/?format=api" }, "data": { "type": "Gene", "id": "PMM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3686/?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": 6 } }