Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SPRY4/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "784", "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": 4.021e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.448e-05, "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": 1.464168, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694541, "genomic_position_hg38": 142314976, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.194456", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.202A>T", "protein_change": "p.Thr68Ser", "transcript_id": "NM_030964.4", "dbsnp_id": "rs775900114", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI358" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/784/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/784/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/784/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/784/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/784/?format=api" } }, { "type": "SmallVariant", "id": "811", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.004458, "gnomad_AFR_maf": 0.001232, "gnomad_AMR_maf": 0.004312, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006438, "gnomad_NFE_maf": 0.00611, "gnomad_OTH_maf": 0.004742, "gnomad_SAS_maf": 0.002908, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.006163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.088439, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694021, "genomic_position_hg38": 142314456, "chromosome": "5", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.354124", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.722C>A", "protein_change": "p.Ser241Tyr", "transcript_id": "NM_030964.4", "dbsnp_id": "rs139512218", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI369" }, { "type": "Combination", "id": "OLI370" }, { "type": "Combination", "id": "OLI371" }, { "type": "Combination", "id": "OLI393" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/811/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/811/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/811/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/811/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/811/?format=api" } }, { "type": "SmallVariant", "id": "1796", "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": "Benign", "cadd_prediction": 1.991717, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 141694628, "genomic_position_hg38": 142315063, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.346097", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.46G>A", "protein_change": "p.Val16Ile", "transcript_id": "NM_030964.3", "dbsnp_id": "rs587776981", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI815" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1796/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1796/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1796/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1796/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1796/?format=api" } }, { "type": "SmallVariant", "id": "1829", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0119, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000564, "gnomad_AFR_maf": 0.0001298, "gnomad_AMR_maf": 0.0001158, "gnomad_ASJ_maf": 0.0008002, "gnomad_EAS_maf": 0.005618, "gnomad_FIN_maf": 4.638e-05, "gnomad_NFE_maf": 0.0001522, "gnomad_OTH_maf": 0.0004937, "gnomad_SAS_maf": 6.535e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003533 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.668283, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694586, "genomic_position_hg38": 142315021, "chromosome": "5", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:51.554023", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.88C>T", "protein_change": "p.Arg30Trp", "transcript_id": "NM_001127496.3", "dbsnp_id": "rs200531302", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI835" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1829/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1829/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1829/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1829/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1829/?format=api" } }, { "type": "SmallVariant", "id": "2660", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0002719, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 9.064e-05, "gnomad_ASJ_maf": 0.005458, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.475e-05, "gnomad_OTH_maf": 0.0001758, "gnomad_SAS_maf": 0.0002201, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.823185, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694430, "genomic_position_hg38": 142314865, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.464113", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.313G>A", "protein_change": "p.Asp105Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1260" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2660/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2660/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2660/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2660/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2660/?format=api" } }, { "type": "SmallVariant", "id": "2692", "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": 4.206716, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694021, "genomic_position_hg38": 142314456, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.668829", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.722C>T", "protein_change": "p.Ser241Phe", "transcript_id": "NM_030964.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1277" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2692/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2692/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2692/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2692/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2692/?format=api" } }, { "type": "SmallVariant", "id": "2722", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0082, "gnomad_maf": 0.002168, "gnomad_AFR_maf": 0.0005541, "gnomad_AMR_maf": 0.0005783, "gnomad_ASJ_maf": 9.923e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001109, "gnomad_NFE_maf": 0.003501, "gnomad_OTH_maf": 0.001793, "gnomad_SAS_maf": 0.002678, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.771578, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694117, "genomic_position_hg38": 142314552, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.846938", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.626G>A", "protein_change": "p.Cys209Tyr", "transcript_id": "NM_030964.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1295" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2722/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2722/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2722/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2722/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2722/?format=api" } }, { "type": "SmallVariant", "id": "2728", "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": 5.082249, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 141694120, "genomic_position_hg38": 142314555, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.883444", "ref_allele": "TC", "alt_allele": "C", "cdna_change": "c.622delG", "protein_change": "p.Glu208SerfsTer74", "transcript_id": "NM_030964.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1298" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2728/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2728/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2728/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2728/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2728/?format=api" } }, { "type": "SmallVariant", "id": "3000", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.001596, "gnomad_AFR_maf": 0.0003088, "gnomad_AMR_maf": 0.001041, "gnomad_ASJ_maf": 0.0004965, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003234, "gnomad_NFE_maf": 0.002351, "gnomad_OTH_maf": 0.0006519, "gnomad_SAS_maf": 0.002515, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.362452, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694213, "genomic_position_hg38": 142314648, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.519925", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.530A>G", "protein_change": "p.Lys177Arg", "transcript_id": "NM_030964.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1426" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3000/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3000/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3000/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3000/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3000/?format=api" } }, { "type": "SmallVariant", "id": "3270", "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": 3.505983, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141694714, "genomic_position_hg38": 142315149, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.107165", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.29T>A", "protein_change": "p.Leu10Gln", "transcript_id": "NM_030964", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1556" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3270/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3270/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3270/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3270/gene/?format=api" }, "data": { "type": "Gene", "id": "SPRY4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3270/?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": 10 } }