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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-112045911-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112045911&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DLAT",
"hgnc_id": 2896,
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001372031.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9619,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Prostate cancer",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8355878591537476,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001931.5",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280346.11",
"protein_coding": true,
"protein_id": "NP_001922.2",
"strand": true,
"transcript": "NM_001931.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000280346.11",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001931.5",
"protein_coding": true,
"protein_id": "ENSP00000280346.7",
"strand": true,
"transcript": "ENST00000280346.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372031.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358960.1",
"strand": true,
"transcript": "NM_001372031.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 653,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000915657.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585716.1",
"strand": true,
"transcript": "ENST00000915657.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 647,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713569.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518862.1",
"strand": true,
"transcript": "ENST00000713569.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372032.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358961.1",
"strand": true,
"transcript": "NM_001372032.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "Y",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681316.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1333T>C",
"hgvs_p": "p.Tyr445His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506560.1",
"strand": true,
"transcript": "ENST00000681316.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 643,
"aa_ref": "Y",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1327,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000915658.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1327T>C",
"hgvs_p": "p.Tyr443His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585717.1",
"strand": true,
"transcript": "ENST00000915658.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372033.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358962.1",
"strand": true,
"transcript": "NM_001372033.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1339,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681328.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1339T>C",
"hgvs_p": "p.Tyr447His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506355.1",
"strand": true,
"transcript": "ENST00000681328.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 636,
"aa_ref": "Y",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372034.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Tyr436His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358963.1",
"strand": true,
"transcript": "NM_001372034.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 636,
"aa_ref": "Y",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679878.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1306T>C",
"hgvs_p": "p.Tyr436His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505567.1",
"strand": true,
"transcript": "ENST00000679878.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 616,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1246,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000873897.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1246T>C",
"hgvs_p": "p.Tyr416His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543956.1",
"strand": true,
"transcript": "ENST00000873897.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 605,
"aa_ref": "Y",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3793,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372036.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1213T>C",
"hgvs_p": "p.Tyr405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358965.1",
"strand": true,
"transcript": "NM_001372036.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 591,
"aa_ref": "Y",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001372037.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1171T>C",
"hgvs_p": "p.Tyr391His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358966.1",
"strand": true,
"transcript": "NM_001372037.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 562,
"aa_ref": "Y",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680411.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1084T>C",
"hgvs_p": "p.Tyr362His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505915.1",
"strand": true,
"transcript": "ENST00000680411.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 554,
"aa_ref": "Y",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001372038.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1060T>C",
"hgvs_p": "p.Tyr354His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358967.1",
"strand": true,
"transcript": "NM_001372038.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 554,
"aa_ref": "Y",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680331.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1060T>C",
"hgvs_p": "p.Tyr354His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506707.1",
"strand": true,
"transcript": "ENST00000680331.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 542,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3563,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001372039.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Tyr342His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358968.1",
"strand": true,
"transcript": "NM_001372039.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 542,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000393051.5",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Tyr342His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376771.1",
"strand": true,
"transcript": "ENST00000393051.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 533,
"aa_ref": "Y",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1602,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915655.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.997T>C",
"hgvs_p": "p.Tyr333His",
"intron_rank": null,
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