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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: 3-30688476-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30688476&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30688476,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000295754.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1489C>A",
"hgvs_p": "p.Arg497Arg",
"transcript": "NM_003242.6",
"protein_id": "NP_003233.4",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 567,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "ENST00000295754.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1489C>A",
"hgvs_p": "p.Arg497Arg",
"transcript": "ENST00000295754.10",
"protein_id": "ENSP00000295754.5",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 567,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "NM_003242.6",
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Arg522Arg",
"transcript": "ENST00000359013.4",
"protein_id": "ENSP00000351905.4",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 592,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4605,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1672C>A",
"hgvs_p": "p.Arg558Arg",
"transcript": "NM_001407126.1",
"protein_id": "NP_001394055.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 628,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 4713,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Arg533Arg",
"transcript": "NM_001407127.1",
"protein_id": "NP_001394056.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 603,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 4638,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1564C>A",
"hgvs_p": "p.Arg522Arg",
"transcript": "NM_001024847.3",
"protein_id": "NP_001020018.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 592,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4605,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1516C>A",
"hgvs_p": "p.Arg506Arg",
"transcript": "NM_001407128.1",
"protein_id": "NP_001394057.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 576,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 4799,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1492C>A",
"hgvs_p": "p.Arg498Arg",
"transcript": "NM_001407129.1",
"protein_id": "NP_001394058.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 568,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 4499,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1486C>A",
"hgvs_p": "p.Arg496Arg",
"transcript": "NM_001407130.1",
"protein_id": "NP_001394059.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 566,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 4527,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1462C>A",
"hgvs_p": "p.Arg488Arg",
"transcript": "ENST00000714391.1",
"protein_id": "ENSP00000519658.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 558,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 4291,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "NM_001407132.1",
"protein_id": "NP_001394061.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 4391,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "NM_001407133.1",
"protein_id": "NP_001394062.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 4708,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "NM_001407134.1",
"protein_id": "NP_001394063.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 4586,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "NM_001407135.1",
"protein_id": "NP_001394064.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 4633,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "NM_001407136.1",
"protein_id": "NP_001394065.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 4718,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "ENST00000714389.1",
"protein_id": "ENSP00000519656.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 4261,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Arg",
"transcript": "ENST00000714390.1",
"protein_id": "ENSP00000519657.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 532,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 4360,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1204C>A",
"hgvs_p": "p.Arg402Arg",
"transcript": "NM_001407137.1",
"protein_id": "NP_001394066.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 472,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 4245,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Arg",
"transcript": "NM_001407138.1",
"protein_id": "NP_001394067.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 447,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 4170,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.619C>A",
"hgvs_p": "p.Arg207Arg",
"transcript": "NM_001407139.1",
"protein_id": "NP_001394068.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 277,
"cds_start": 619,
"cds_end": null,
"cds_length": 834,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 3660,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1441C>A",
"hgvs_p": "p.Arg481Arg",
"transcript": "XM_047448787.1",
"protein_id": "XP_047304743.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 551,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 9195,
"cdna_end": null,
"cdna_length": 11953,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.373C>A",
"hgvs_p": null,
"transcript": "ENST00000672050.1",
"protein_id": null,
"transcript_support_level": null,
"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": 915,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.3085C>A",
"hgvs_p": null,
"transcript": "ENST00000672866.1",
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},
{
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{
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},
{
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],
"gene_symbol": "TGFBR2",
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"dbsnp": "rs863223852",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.144,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
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"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295754.10",
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1489C>A",
"hgvs_p": "p.Arg497Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}