Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/RNF216/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "36", "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": "Possibly Damaging", "cadd_prediction": 3.815095, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5680793, "genomic_position_hg38": 5641162, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:40.731667", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2374G>A", "protein_change": "p.Asp792Asn", "transcript_id": "NM_207111.4", "dbsnp_id": "rs1012568298", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI018" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/36/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/36/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/36/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/36/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/36/?format=api" } }, { "type": "SmallVariant", "id": "586", "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": 4.535626, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5680916, "genomic_position_hg38": 5641285, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.935634", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2251C>T", "protein_change": "p.Arg751Cys", "transcript_id": "NM_207111.4", "dbsnp_id": "rs387907368", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1416" }, { "type": "Combination", "id": "OLI302" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/586/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/586/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/586/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/586/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/586/?format=api" } }, { "type": "SmallVariant", "id": "773", "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": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002068, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001413, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.79e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0004899, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.948265, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5780903, "genomic_position_hg38": 5741272, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.129818", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.745G>T", "protein_change": "p.Val249Phe", "transcript_id": "NM_207111.4", "dbsnp_id": "rs200838092", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/773/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/773/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/773/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/773/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/773/?format=api" } }, { "type": "SmallVariant", "id": "1799", "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": 4.074112, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5792572, "genomic_position_hg38": 5752941, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.365627", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.106G>A", "protein_change": "p.Asp36Asn", "transcript_id": "NM_207116.2", "dbsnp_id": "rs1795409410", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI816" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1799/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1799/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1799/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1799/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1799/?format=api" } }, { "type": "SmallVariant", "id": "2933", "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": 0.0002833, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.785e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0005987, "gnomad_OTH_maf": 0.0001636, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.977979, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5754800, "genomic_position_hg38": 5715169, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.110223", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1717C>T", "protein_change": "p.Arg573Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1397" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2933/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2933/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2933/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2933/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2933/?format=api" } }, { "type": "SmallVariant", "id": "2978", "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": 0.0, "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": 0.0, "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": "Damaging", "cadd_prediction": 4.049048, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5692054, "genomic_position_hg38": 5652423, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.384442", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2149C>T", "protein_change": "p.Arg717Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1416" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2978/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2978/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2978/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2978/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2978/?format=api" } }, { "type": "SmallVariant", "id": "3198", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 0.0001352, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0005494, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.671e-05, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 0.847, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5780863, "genomic_position_hg38": 5741232, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.669251", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.785G>A", "protein_change": "p.Arg262His", "transcript_id": "NM_207111", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1524" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3198/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3198/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3198/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3198/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3198/?format=api" } }, { "type": "SmallVariant", "id": "3238", "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": 3.616793, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5781226, "genomic_position_hg38": 5741595, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.913040", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.422G>T", "protein_change": "p.Gly141Val", "transcript_id": "NM_207111", "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/3238/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3238/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3238/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3238/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3238/?format=api" } }, { "type": "SmallVariant", "id": "3246", "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": "Possibly Damaging", "cadd_prediction": 2.924954, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5764988, "genomic_position_hg38": 5725357, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.963360", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1471C>A", "protein_change": "p.Gln491Lys", "transcript_id": "NM_207111", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3246/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3246/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3246/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3246/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3246/?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": 9 } }