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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: 11-108227635-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108227635&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108227635,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000051.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "NM_000051.4",
"protein_id": "NP_000042.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "ENST00000675843.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000675843.1",
"protein_id": "ENSP00000501606.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 12915,
"mane_select": "NM_000051.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000452508.7",
"protein_id": "ENSP00000388058.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 13247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000531525.3",
"protein_id": "ENSP00000434327.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 1486,
"cds_start": 11,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000526567.5",
"protein_id": "ENSP00000480205.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 560,
"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": 2,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "n.11T>A",
"hgvs_p": null,
"transcript": "ENST00000527805.6",
"protein_id": "ENSP00000435747.2",
"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": 9287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "NM_001351834.2",
"protein_id": "NP_001338763.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 13003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000278616.10",
"protein_id": "ENSP00000278616.4",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 11233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000601453.3",
"protein_id": "ENSP00000469471.2",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 14216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000713844.1",
"protein_id": "ENSP00000519149.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 3056,
"cds_start": 11,
"cds_end": null,
"cds_length": 9171,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000530958.5",
"protein_id": "ENSP00000483338.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 168,
"cds_start": 11,
"cds_end": null,
"cds_length": 507,
"cdna_start": 4533,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000684029.1",
"protein_id": "ENSP00000508010.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 168,
"cds_start": 11,
"cds_end": null,
"cds_length": 507,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "NM_001351835.2",
"protein_id": "NP_001338764.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "NM_001351836.2",
"protein_id": "NP_001338765.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
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"cdna_start": 403,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000532931.6",
"protein_id": "ENSP00000432318.2",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000639240.1",
"protein_id": "ENSP00000491585.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
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"cdna_start": 138,
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"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000639953.1",
"protein_id": "ENSP00000492487.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000640388.1",
"protein_id": "ENSP00000492354.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000682465.1",
"protein_id": "ENSP00000508284.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
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"cdna_start": 145,
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"cdna_length": 2862,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000683150.1",
"protein_id": "ENSP00000507125.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000683468.1",
"protein_id": "ENSP00000508178.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 4550,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000683914.2",
"protein_id": "ENSP00000507649.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATM",
"gene_hgnc_id": 795,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000713845.1",
"protein_id": "ENSP00000519150.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 112,
"cds_start": 11,
"cds_end": null,
"cds_length": 339,
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}
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}