Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/AMH/variants/?format=api
https://olida.ibsquare.be/api/variants/1444/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1444/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1444/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1444/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1444/?format=api" } }, { "type": "SmallVariant", "id": "2445", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0129, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.004675, "gnomad_AFR_maf": 0.01324, "gnomad_AMR_maf": 0.002264, "gnomad_ASJ_maf": 0.04015, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.002042, "gnomad_OTH_maf": 0.00741, "gnomad_SAS_maf": 0.00121, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.528515, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2251247, "genomic_position_hg38": 2251248, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.297390", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.974A>G", "protein_change": "p.Gln325Arg", "transcript_id": "NM_000479", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1136" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2445/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2445/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2445/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2445/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2445/?format=api" } }, { "type": "SmallVariant", "id": "2447", "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": 3.751e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.195e-05, "gnomad_ASJ_maf": 0.0001087, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.346e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001167 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.836647, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2250374, "genomic_position_hg38": 2250375, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.309489", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.451C>T", "protein_change": "p.Pro151Ser", "transcript_id": "NM_000479", "dbsnp_id": "rs370532523", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1137" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2447/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2447/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2447/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2447/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2447/?format=api" } }, { "type": "SmallVariant", "id": "2449", "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": 2.543031, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2249567, "genomic_position_hg38": 2249568, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.321880", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.236A>G", "protein_change": "p.Tyr79Cys", "transcript_id": "NM_000479", "dbsnp_id": "rs1264574264", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1138" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2449/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2449/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2449/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2449/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2449/?format=api" } }, { "type": "SmallVariant", "id": "2919", "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": 0.0001057, "gnomad_AFR_maf": 6.77e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002162, "gnomad_OTH_maf": 0.0001721, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.899021, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2249467, "genomic_position_hg38": 2249468, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.025274", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.136C>G", "protein_change": "p.Pro46Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1390" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2919/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2919/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2919/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2919/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2919/?format=api" } }, { "type": "SmallVariant", "id": "2940", "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": 7.779e-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": 0.0001901, "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": 0.634363, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2251486, "genomic_position_hg38": 2251487, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.152576", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1213G>C", "protein_change": "p.Ala405Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1401" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2940/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2940/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2940/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2940/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2940/?format=api" } }, { "type": "SmallVariant", "id": "2965", "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": 0.000245, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003114, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004393, "gnomad_OTH_maf": 0.0002608, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.445671, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2249626, "genomic_position_hg38": 2249627, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.304468", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.295A>T", "protein_change": "p.Thr99Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1410" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2965/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2965/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2965/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2965/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2965/?format=api" } }, { "type": "SmallVariant", "id": "2996", "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": 1.348e-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": 3.317e-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": "Damaging", "cadd_prediction": 3.946194, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2251939, "genomic_position_hg38": 2251940, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.495798", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1666G>A", "protein_change": "p.Glu556Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1424" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2996/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2996/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2996/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2996/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2996/?format=api" } }, { "type": "SmallVariant", "id": "3280", "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": 4.82e-05, "gnomad_AFR_maf": 0.0005889, "gnomad_AMR_maf": 9.491e-05, "gnomad_ASJ_maf": 0.0002782, "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.198221, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2251264, "genomic_position_hg38": 2251265, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.167993", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.991T>C", "protein_change": "p.Ser331Pro", "transcript_id": "NM_000479", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1560" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3280/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3280/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3280/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3280/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3280/?format=api" } }, { "type": "SmallVariant", "id": "3309", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001591, "gnomad_AFR_maf": 0.000152, "gnomad_AMR_maf": 0.002355, "gnomad_ASJ_maf": 0.0002132, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005606, "gnomad_NFE_maf": 0.002521, "gnomad_OTH_maf": 0.001802, "gnomad_SAS_maf": 0.0001356, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.743517, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2251829, "genomic_position_hg38": 2251830, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.344450", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1556C>T", "protein_change": "p.Ala519Val", "transcript_id": "NM_000479", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3309/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3309/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3309/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3309/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3309/?format=api" } }, { "type": "SmallVariant", "id": "3332", "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": 0.0004121, "gnomad_AFR_maf": 0.0005023, "gnomad_AMR_maf": 0.0005661, "gnomad_ASJ_maf": 0.003204, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002199, "gnomad_OTH_maf": 0.001153, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.376007, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 2250476, "genomic_position_hg38": 2250477, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.484841", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.553C>G", "protein_change": "p.Gln185Glu", "transcript_id": "NM_000479", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1580" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3332/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3332/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3332/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3332/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3332/?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": 11 } }{ "data": [ { "type": "SmallVariant", "id": "1444", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0038, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0149, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005371, "gnomad_AFR_maf": 0.001338, "gnomad_AMR_maf": 0.00231, "gnomad_ASJ_maf": 0.003202, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006602, "gnomad_NFE_maf": 0.009293, "gnomad_OTH_maf": 0.006562, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.001149, "ESP_EA_maf": 0.007464 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": 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