Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GPRC6A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3157", "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": null, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117113762, "genomic_position_hg38": 116792599, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.425175", "ref_allele": "A", "alt_allele": "AA", "cdna_change": "c.2323dupT", "protein_change": "p.Tyr775fs", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1508" }, { "type": "Combination", "id": "OLI1561" }, { "type": "Combination", "id": "OLI1567" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3157/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3157/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3157/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3157/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3157/?format=api" } }, { "type": "SmallVariant", "id": "3183", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0046, "KGP_genomes_AFR_maf": 0.0166, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001089, "gnomad_AFR_maf": 0.01489, "gnomad_AMR_maf": 0.0006373, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.526e-05, "gnomad_OTH_maf": 0.0008199, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.794285, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117121904, "genomic_position_hg38": 116800741, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.577484", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1391T>A", "protein_change": "p.Phe464Tyr", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1518" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3183/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3183/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3183/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3183/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3183/?format=api" } }, { "type": "SmallVariant", "id": "3186", "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.382526, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 117130550, "genomic_position_hg38": 116809387, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.595239", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.425C>T", "protein_change": "p.Ala142Val", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1519" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3186/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3186/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3186/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3186/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3186/?format=api" } }, { "type": "SmallVariant", "id": "3202", "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": 1.197e-05, "gnomad_AFR_maf": 6.155e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-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": 3.465497, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117114204, "genomic_position_hg38": 116793041, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.694179", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1882G>A", "protein_change": "p.Gly628Arg", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1525" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3202/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3202/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3202/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3202/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3202/?format=api" } }, { "type": "SmallVariant", "id": "3204", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0045, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005136, "gnomad_AFR_maf": 0.003384, "gnomad_AMR_maf": 0.0008394, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000317, "gnomad_OTH_maf": 0.001472, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.727098, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117121767, "genomic_position_hg38": 116800604, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.706527", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1528A>C", "protein_change": "p.Asn510His", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1526" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3204/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3204/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3204/?format=api" } }, { "type": "SmallVariant", "id": "3239", "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": 6.356583, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 117121913, "genomic_position_hg38": 116800750, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.919349", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1382C>G", "protein_change": "p.Ser461Ter", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1541" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3239/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3239/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3239/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3239/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3239/?format=api" } }, { "type": "SmallVariant", "id": "3312", "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": 5.582e-05, "gnomad_AFR_maf": 0.0007386, "gnomad_AMR_maf": 2.898e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.832e-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": 3.102095, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 117128198, "genomic_position_hg38": 116807035, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.362290", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.670G>T", "protein_change": "p.Ala224Ser", "transcript_id": "NM_148963", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3312/gene/?format=api" }, "data": { "type": "Gene", "id": "GPRC6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3312/?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 } }