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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: 16-2084639-AAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2084639&ref=AAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2084639,
"ref": "AAG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000219476.9",
"consequences": [
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4422_4423delAG",
"hgvs_p": "p.Arg1474fs",
"transcript": "NM_000548.5",
"protein_id": "NP_000539.2",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4422,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4532,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "ENST00000219476.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4422_4423delAG",
"hgvs_p": "p.Arg1474fs",
"transcript": "ENST00000219476.9",
"protein_id": "ENSP00000219476.3",
"transcript_support_level": 5,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1807,
"cds_start": 4422,
"cds_end": null,
"cds_length": 5424,
"cdna_start": 4532,
"cdna_end": null,
"cdna_length": 6415,
"mane_select": "NM_000548.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4353_4354delAG",
"hgvs_p": "p.Arg1451fs",
"transcript": "ENST00000350773.9",
"protein_id": "ENSP00000344383.4",
"transcript_support_level": 1,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4428,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4221_4222delAG",
"hgvs_p": "p.Arg1407fs",
"transcript": "ENST00000401874.7",
"protein_id": "ENSP00000384468.2",
"transcript_support_level": 1,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1740,
"cds_start": 4221,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 4327,
"cdna_end": null,
"cdna_length": 5437,
"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": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*3589_*3590delAG",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"transcript_support_level": 1,
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "n.*3589_*3590delAG",
"hgvs_p": null,
"transcript": "ENST00000439117.6",
"protein_id": "ENSP00000406980.2",
"transcript_support_level": 1,
"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": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4512_4513delAG",
"hgvs_p": "p.Arg1504fs",
"transcript": "ENST00000645186.2",
"protein_id": "ENSP00000495110.2",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1837,
"cds_start": 4512,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 4622,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4419_4420delAG",
"hgvs_p": "p.Arg1473fs",
"transcript": "NM_001406663.1",
"protein_id": "NP_001393592.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4419,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4529,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4419_4420delAG",
"hgvs_p": "p.Arg1473fs",
"transcript": "ENST00000642365.2",
"protein_id": "ENSP00000495459.2",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1806,
"cds_start": 4419,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 4490,
"cdna_end": null,
"cdna_length": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4422_4423delAG",
"hgvs_p": "p.Arg1474fs",
"transcript": "ENST00000646388.1",
"protein_id": "ENSP00000495921.1",
"transcript_support_level": null,
"aa_start": 1474,
"aa_end": null,
"aa_length": 1805,
"cds_start": 4422,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4508,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4353_4354delAG",
"hgvs_p": "p.Arg1451fs",
"transcript": "NM_001114382.3",
"protein_id": "NP_001107854.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1784,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5355,
"cdna_start": 4463,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4350_4351delAG",
"hgvs_p": "p.Arg1450fs",
"transcript": "NM_001406664.1",
"protein_id": "NP_001393593.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4350,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4460,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4353_4354delAG",
"hgvs_p": "p.Arg1451fs",
"transcript": "ENST00000643946.1",
"protein_id": "ENSP00000495927.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4471,
"cdna_end": null,
"cdna_length": 6344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4344_4345delAG",
"hgvs_p": "p.Arg1448fs",
"transcript": "NM_001406665.1",
"protein_id": "NP_001393594.1",
"transcript_support_level": null,
"aa_start": 1448,
"aa_end": null,
"aa_length": 1781,
"cds_start": 4344,
"cds_end": null,
"cds_length": 5346,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4341_4342delAG",
"hgvs_p": "p.Arg1447fs",
"transcript": "ENST00000644399.1",
"protein_id": "ENSP00000493990.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1780,
"cds_start": 4341,
"cds_end": null,
"cds_length": 5343,
"cdna_start": 4343,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4314_4315delAG",
"hgvs_p": "p.Arg1438fs",
"transcript": "NM_001406667.1",
"protein_id": "NP_001393596.1",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1771,
"cds_start": 4314,
"cds_end": null,
"cds_length": 5316,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4311_4312delAG",
"hgvs_p": "p.Arg1437fs",
"transcript": "NM_001406668.1",
"protein_id": "NP_001393597.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1770,
"cds_start": 4311,
"cds_end": null,
"cds_length": 5313,
"cdna_start": 4421,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4221_4222delAG",
"hgvs_p": "p.Arg1407fs",
"transcript": "ENST00000644329.1",
"protein_id": "ENSP00000496611.1",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1769,
"cds_start": 4221,
"cds_end": null,
"cds_length": 5310,
"cdna_start": 4283,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4293_4294delAG",
"hgvs_p": "p.Arg1431fs",
"transcript": "NM_021055.3",
"protein_id": "NP_066399.2",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4293,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4293_4294delAG",
"hgvs_p": "p.Arg1431fs",
"transcript": "ENST00000644043.1",
"protein_id": "ENSP00000496262.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1764,
"cds_start": 4293,
"cds_end": null,
"cds_length": 5295,
"cdna_start": 4347,
"cdna_end": null,
"cdna_length": 5457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4290_4291delAG",
"hgvs_p": "p.Arg1430fs",
"transcript": "NM_001370404.1",
"protein_id": "NP_001357333.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4290,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4400,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSC2",
"gene_hgnc_id": 12363,
"hgvs_c": "c.4290_4291delAG",
"hgvs_p": "p.Arg1430fs",
"transcript": "ENST00000642936.1",
"protein_id": "ENSP00000494514.1",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1763,
"cds_start": 4290,
"cds_end": null,
"cds_length": 5292,
"cdna_start": 4399,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "RV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Tuberous sclerosis 2,Tuberous sclerosis syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:2",
"phenotype_combined": "Tuberous sclerosis syndrome|Hereditary cancer-predisposing syndrome|Tuberous sclerosis 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}