Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/STXBP2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1132", "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": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "19", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:04.531109", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1782*12G>A", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI541" }, { "type": "Combination", "id": "OLI542" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1132/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1132/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1132/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1132/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1132/?format=api" } }, { "type": "SmallVariant", "id": "49", "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": 7.982e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001089, "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": 2.39537, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7706933, "genomic_position_hg38": 7642047, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.815183", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.592A>C", "protein_change": "p.Thr198Pro", "transcript_id": "NM_006949.3", "dbsnp_id": "rs760187284", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/49/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/49/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/49/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/49/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/49/?format=api" } }, { "type": "SmallVariant", "id": "106", "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": 2.027342, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7702046, "genomic_position_hg38": 7637160, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.148223", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.11C>T", "protein_change": "p.Ser4Leu", "transcript_id": "NM_006949.3", "dbsnp_id": "rs1367435143", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI053" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/106/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/106/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/106/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/106/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/106/?format=api" } }, { "type": "SmallVariant", "id": "114", "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": 8.73e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001192, "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": 0.689866, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7712375, "genomic_position_hg38": 7647489, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.197261", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1674G>T", "protein_change": "p.Glu558Asp", "transcript_id": "NM_006949.3", "dbsnp_id": "rs780461960", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI057" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/114/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/114/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/114/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/114/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/114/?format=api" } }, { "type": "SmallVariant", "id": "1125", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0046, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0139, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.01078, "gnomad_AFR_maf": 0.002339, "gnomad_AMR_maf": 0.00619, "gnomad_ASJ_maf": 0.02431, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 0.005883, "gnomad_NFE_maf": 0.01633, "gnomad_OTH_maf": 0.01565, "gnomad_SAS_maf": 0.00428, "ESP_AA_maf": 0.003404, "ESP_EA_maf": 0.01616 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.56434, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7708058, "genomic_position_hg38": 7643172, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.284191", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1034C>T", "protein_change": "p.Thr345Met", "transcript_id": "NM_006949.3", "dbsnp_id": "rs117761837", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI535" }, { "type": "Combination", "id": "OLI536" }, { "type": "Combination", "id": "OLI546" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1125/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1125/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1125/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1125/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1125/?format=api" } }, { "type": "SmallVariant", "id": "1127", "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": 0.001401, "gnomad_AFR_maf": 0.0004567, "gnomad_AMR_maf": 0.000957, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001347, "gnomad_NFE_maf": 0.002393, "gnomad_OTH_maf": 0.001325, "gnomad_SAS_maf": 9.817e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002562 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.438596, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7712287, "genomic_position_hg38": 7647401, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.296861", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1586G>C", "protein_change": "p.Arg529Pro", "transcript_id": "NM_006949.3", "dbsnp_id": "rs35490401", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI537" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1127/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1127/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1127/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1127/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1127/?format=api" } }, { "type": "SmallVariant", "id": "1128", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0015, "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": 0.0004241, "gnomad_AFR_maf": 0.005132, "gnomad_AMR_maf": 0.0002326, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005567, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.714e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.84e-05, "ESP_AA_maf": 0.007976, "ESP_EA_maf": 0.000117 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.143566, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7712054, "genomic_position_hg38": 7647168, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.303166", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1459G>A", "protein_change": "p.Val487Met", "transcript_id": "NM_006949.3", "dbsnp_id": "rs150174842", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1128/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1128/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1128/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1128/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1128/?format=api" } }, { "type": "SmallVariant", "id": "1129", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0189, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.01178, "gnomad_AFR_maf": 0.004553, "gnomad_AMR_maf": 0.003527, "gnomad_ASJ_maf": 0.004365, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01216, "gnomad_NFE_maf": 0.0199, "gnomad_OTH_maf": 0.01141, "gnomad_SAS_maf": 0.004083, "ESP_AA_maf": 0.00522, "ESP_EA_maf": 0.01802 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.227189, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7707311, "genomic_position_hg38": 7642425, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.309423", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.795-4C>T", "protein_change": null, "transcript_id": "NM_006949.3", "dbsnp_id": "rs151257815", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI539" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1129/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1129/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1129/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1129/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1129/?format=api" } }, { "type": "SmallVariant", "id": "1130", "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": 8.387e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.789e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001592, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.698531, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7707660, "genomic_position_hg38": 7642774, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.315684", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.911C>T", "protein_change": "p.Thr304Met", "transcript_id": "NM_006949.3", "dbsnp_id": "rs200135215", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI540" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1130/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1130/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1130/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1130/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1130/?format=api" } }, { "type": "SmallVariant", "id": "1134", "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": 3.42612, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 7707149, "genomic_position_hg38": 7642263, "chromosome": "19", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:47.334381", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.715C>T", "protein_change": "p.Pro239Ser", "transcript_id": "NM_001127396.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI543" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1134/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1134/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1134/relationships/gene_name?format=api", "related": 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