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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: 3-11029272-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11029272&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11029272,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000287766.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Leu439Phe",
"transcript": "ENST00000698198.1",
"protein_id": "ENSP00000513602.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 623,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Leu424Phe",
"transcript": "ENST00000644803.1",
"protein_id": "ENSP00000494469.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 608,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000643396.1",
"protein_id": "ENSP00000494136.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 3984,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1692,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000645029.1",
"protein_id": "ENSP00000496171.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
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"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1791,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000645592.1",
"protein_id": "ENSP00000496619.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
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"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000645974.1",
"protein_id": "ENSP00000496390.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000646022.1",
"protein_id": "ENSP00000494134.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000646060.1",
"protein_id": "ENSP00000496302.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
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"cdna_start": 1834,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000646570.1",
"protein_id": "ENSP00000496064.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
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"cdna_start": 1949,
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"cdna_length": 4727,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000646702.1",
"protein_id": "ENSP00000496697.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Leu415Phe",
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 599,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}