Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/FRAS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "709", "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": 1.205e-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": 1.775e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.5294, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 79393385, "genomic_position_hg38": 78472231, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.719002", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7423G>A", "protein_change": "p.Glu2475Lys", "transcript_id": "NM_025074.7", "dbsnp_id": "rs775728583", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI339" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/709/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/709/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/709/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/709/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/709/?format=api" } }, { "type": "SmallVariant", "id": "740", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001654, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002126, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.913e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.528144, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79455607, "genomic_position_hg38": 78534453, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.917901", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.10930C>T", "protein_change": "p.Leu3644=", "transcript_id": "NM_025074.7", "dbsnp_id": "rs183729151", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI348" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/740/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/740/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/740/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/740/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/740/?format=api" } }, { "type": "SmallVariant", "id": "750", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0159, "KGP_genomes_EAS_maf": 0.0159, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.009833, "gnomad_AFR_maf": 0.001359, "gnomad_AMR_maf": 0.03924, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.01941, "gnomad_FIN_maf": 0.02442, "gnomad_NFE_maf": 0.0008878, "gnomad_OTH_maf": 0.007634, "gnomad_SAS_maf": 0.001701, "ESP_AA_maf": 0.0005313, "ESP_EA_maf": 0.0003645 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.842936, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79393310, "genomic_position_hg38": 78472156, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.982096", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.7372-24A>G", "protein_change": null, "transcript_id": "NM_025074.7", "dbsnp_id": "rs78365404", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/750/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/750/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/750/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/750/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/750/?format=api" } }, { "type": "SmallVariant", "id": "751", "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": 4.82e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0006676, "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": 1.552541, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79403007, "genomic_position_hg38": 78481853, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.988602", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.8493C>G", "protein_change": "p.Phe2831Leu", "transcript_id": "NM_025074.7", "dbsnp_id": "rs774409872", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/751/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/751/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/751/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/751/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/751/?format=api" } }, { "type": "SmallVariant", "id": "756", "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": 0.51505, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79367447, "genomic_position_hg38": 78446293, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.020924", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5857-434C>T", "protein_change": null, "transcript_id": "NM_025074.7", "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/756/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/756/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/756/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/756/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/756/?format=api" } }, { "type": "SmallVariant", "id": "766", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0004351, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.003813, "gnomad_EAS_maf": 0.003308, "gnomad_FIN_maf": 4.66e-05, "gnomad_NFE_maf": 4.49e-05, "gnomad_OTH_maf": 0.0005037, "gnomad_SAS_maf": 3.349e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003666 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.116609, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79373031, "genomic_position_hg38": 78451877, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.084749", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6569C>T", "protein_change": "p.Ser2190Phe", "transcript_id": "NM_025074.7", "dbsnp_id": "rs200166354", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/766/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/766/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/766/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/766/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/766/?format=api" } }, { "type": "SmallVariant", "id": "1299", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 2.439e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001186, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.787e-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": "Possibly Damaging", "cadd_prediction": 3.104797, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 79334181, "genomic_position_hg38": 78413027, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.307594", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4367T>C", "protein_change": "p.Ile1456Thr", "transcript_id": "NM_025074.6", "dbsnp_id": "rs560902495", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1299/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1299/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1299/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1299/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1299/?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": 7 } }