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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: 11-112025600-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112025600&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 112025600,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000280346.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001931.5",
"protein_id": "NP_001922.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 647,
"cds_start": 128,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "ENST00000280346.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000280346.11",
"protein_id": "ENSP00000280346.7",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 647,
"cds_start": 128,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3878,
"mane_select": "NM_001931.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372031.1",
"protein_id": "NP_001358960.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 653,
"cds_start": 128,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000713569.1",
"protein_id": "ENSP00000518862.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 647,
"cds_start": 128,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372032.1",
"protein_id": "NP_001358961.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 645,
"cds_start": 128,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000681316.1",
"protein_id": "ENSP00000506560.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 645,
"cds_start": 128,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 3825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372033.1",
"protein_id": "NP_001358962.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 640,
"cds_start": 128,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000681328.1",
"protein_id": "ENSP00000506355.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 640,
"cds_start": 128,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372034.1",
"protein_id": "NP_001358963.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 636,
"cds_start": 128,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000679878.1",
"protein_id": "ENSP00000505567.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 636,
"cds_start": 128,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372035.1",
"protein_id": "NP_001358964.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 611,
"cds_start": 128,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000681339.1",
"protein_id": "ENSP00000506167.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 611,
"cds_start": 128,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372038.1",
"protein_id": "NP_001358967.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 554,
"cds_start": 128,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000680331.1",
"protein_id": "ENSP00000506707.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 554,
"cds_start": 128,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372039.1",
"protein_id": "NP_001358968.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 542,
"cds_start": 128,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000393051.5",
"protein_id": "ENSP00000376771.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 542,
"cds_start": 128,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372040.1",
"protein_id": "NP_001358969.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 520,
"cds_start": 128,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "ENST00000531306.2",
"protein_id": "ENSP00000433432.2",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 520,
"cds_start": 128,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.128C>T",
"hgvs_p": "p.Ala43Val",
"transcript": "NM_001372041.1",
"protein_id": "NP_001358970.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 506,
"cds_start": 128,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.87C>T",
"hgvs_p": "p.Arg29Arg",
"transcript": "NM_001372036.1",
"protein_id": "NP_001358965.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 605,
"cds_start": 87,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "c.87C>T",
"hgvs_p": "p.Arg29Arg",
"transcript": "NM_001372037.1",
"protein_id": "NP_001358966.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 591,
"cds_start": 87,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.175C>T",
"hgvs_p": null,
"transcript": "ENST00000527231.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLAT",
"gene_hgnc_id": 2896,
"hgvs_c": "n.128C>T",
"hgvs_p": null,
"transcript": "ENST00000533297.1",
"protein_id": "ENSP00000435374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"bayesdelnoaf_prediction": "Benign",
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{
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],
"clinvar_disease": "Pyruvate dehydrogenase E2 deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Pyruvate dehydrogenase E2 deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}