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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: 12-2679713-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2679713&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2679713,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2138,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5595G>A",
"hgvs_p": "p.Thr1865Thr",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 1865,
"aa_end": null,
"aa_length": 2251,
"cds_start": 5595,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 5886,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2209,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5328G>A",
"hgvs_p": "p.Thr1776Thr",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 1776,
"aa_end": null,
"aa_length": 2198,
"cds_start": 5328,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 5904,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5526G>A",
"hgvs_p": "p.Thr1842Thr",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 2193,
"cds_start": 5526,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 5526,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5505G>A",
"hgvs_p": "p.Thr1835Thr",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2186,
"cds_start": 5505,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6081,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5484G>A",
"hgvs_p": "p.Thr1828Thr",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 1828,
"aa_end": null,
"aa_length": 2179,
"cds_start": 5484,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 5484,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5937,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5361G>A",
"hgvs_p": "p.Thr1787Thr",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 1787,
"aa_end": null,
"aa_length": 2173,
"cds_start": 5361,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5451G>A",
"hgvs_p": "p.Thr1817Thr",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5451,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5639,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5451G>A",
"hgvs_p": "p.Thr1817Thr",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5451,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5639,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5451G>A",
"hgvs_p": "p.Thr1817Thr",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5451,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5467,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5451G>A",
"hgvs_p": "p.Thr1817Thr",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 2168,
"cds_start": 5451,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 5467,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5445G>A",
"hgvs_p": "p.Thr1815Thr",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 1815,
"aa_end": null,
"aa_length": 2166,
"cds_start": 5445,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5445,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Thr1812Thr",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 1812,
"aa_end": null,
"aa_length": 2163,
"cds_start": 5436,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 5991,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5421G>A",
"hgvs_p": "p.Thr1807Thr",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 1807,
"aa_end": null,
"aa_length": 2158,
"cds_start": 5421,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 5421,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5418G>A",
"hgvs_p": "p.Thr1806Thr",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5418,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5418G>A",
"hgvs_p": "p.Thr1806Thr",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5418,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.5418G>A",
"hgvs_p": "p.Thr1806Thr",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 1806,
"aa_end": null,
"aa_length": 2157,
"cds_start": 5418,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.86,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "ENST00000347598.9",
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"inheritance_mode": "AD",
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{
"score": -20,
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"criteria": [
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"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000501371.5",
"gene_symbol": "ITFG2-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.295-1816C>T",
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{
"score": -20,
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"BA1"
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"verdict": "Benign",
"transcript": "NR_045725.1",
"gene_symbol": "CACNA1C-AS1",
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"effects": [
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}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome,Timothy syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Cardiovascular phenotype|Long QT syndrome|Timothy syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}