Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MYO18B/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "702", "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": 8.048e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001113, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.818509, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 26219648, "genomic_position_hg38": 25823681, "chromosome": "22", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.674445", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2695+3A>G", "protein_change": null, "transcript_id": "NM_032608.7", "dbsnp_id": "rs762240905", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI337" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/702/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/702/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/702/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/702/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO18B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/702/?format=api" } }, { "type": "SmallVariant", "id": "714", "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": 3.444e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003971, "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": 0.405245, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 26164545, "genomic_position_hg38": 25768578, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.751127", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.662T>C", "protein_change": "p.Leu221Pro", "transcript_id": "NM_032608.6", "dbsnp_id": "rs773852377", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI341" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/714/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/714/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/714/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/714/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO18B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/714/?format=api" } }, { "type": "SmallVariant", "id": "716", "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": 1.663e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002291, "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": -0.102008, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 26299670, "genomic_position_hg38": 25903703, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.763852", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5020G>A", "protein_change": "p.Gly1674Arg", "transcript_id": "NM_032608.6", "dbsnp_id": "rs757287380", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI342" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/716/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/716/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/716/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/716/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO18B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/716/?format=api" } }, { "type": "SmallVariant", "id": "1734", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004856, "gnomad_AFR_maf": 0.0002583, "gnomad_AMR_maf": 5.792e-05, "gnomad_ASJ_maf": 9.936e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002655, "gnomad_OTH_maf": 0.0008256, "gnomad_SAS_maf": 0.002582, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.894657, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 26224835, "genomic_position_hg38": 25828868, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.983989", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2879C>T", "protein_change": "p.Ala960Val", "transcript_id": "NM_032608.6", "dbsnp_id": "rs147134820", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI790" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1734/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1734/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1734/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1734/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO18B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1734/?format=api" } }, { "type": "SmallVariant", "id": "1735", "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": 6.887e-05, "gnomad_AFR_maf": 7.714e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001206, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 7.386e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.976094, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 26242095, "genomic_position_hg38": 25846128, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.990189", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3397C>T", "protein_change": "p.Arg1133Trp", "transcript_id": "NM_032608.6", "dbsnp_id": "rs775800465", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI790" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1735/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1735/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1735/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1735/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO18B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1735/?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 } }