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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: 12-2691054-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2691054&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2691054,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000347598.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6272A>G",
"hgvs_p": "p.Asn2091Ser",
"transcript": "NM_000719.7",
"protein_id": "NP_000710.5",
"transcript_support_level": null,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6272,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6848,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "ENST00000399655.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6272A>G",
"hgvs_p": "p.Asn2091Ser",
"transcript": "NM_001167623.2",
"protein_id": "NP_001161095.1",
"transcript_support_level": null,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6272,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6848,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "ENST00000399603.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6272A>G",
"hgvs_p": "p.Asn2091Ser",
"transcript": "ENST00000399603.6",
"protein_id": "ENSP00000382512.1",
"transcript_support_level": 5,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6272,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6848,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": null,
"mane_plus": "NM_001167623.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6272A>G",
"hgvs_p": "p.Asn2091Ser",
"transcript": "ENST00000399655.6",
"protein_id": "ENSP00000382563.1",
"transcript_support_level": 1,
"aa_start": 2091,
"aa_end": null,
"aa_length": 2138,
"cds_start": 6272,
"cds_end": null,
"cds_length": 6417,
"cdna_start": 6848,
"cdna_end": null,
"cdna_length": 13744,
"mane_select": "NM_000719.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6611A>G",
"hgvs_p": "p.Asn2204Ser",
"transcript": "ENST00000682544.1",
"protein_id": "ENSP00000507184.1",
"transcript_support_level": null,
"aa_start": 2204,
"aa_end": null,
"aa_length": 2251,
"cds_start": 6611,
"cds_end": null,
"cds_length": 6756,
"cdna_start": 6902,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6485A>G",
"hgvs_p": "p.Asn2162Ser",
"transcript": "ENST00000406454.8",
"protein_id": "ENSP00000385896.3",
"transcript_support_level": 5,
"aa_start": 2162,
"aa_end": null,
"aa_length": 2209,
"cds_start": 6485,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 7061,
"cdna_end": null,
"cdna_length": 8166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6452A>G",
"hgvs_p": "p.Asn2151Ser",
"transcript": "ENST00000399634.6",
"protein_id": "ENSP00000382542.2",
"transcript_support_level": 5,
"aa_start": 2151,
"aa_end": null,
"aa_length": 2198,
"cds_start": 6452,
"cds_end": null,
"cds_length": 6597,
"cdna_start": 7028,
"cdna_end": null,
"cdna_length": 8133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6437A>G",
"hgvs_p": "p.Asn2146Ser",
"transcript": "ENST00000683824.1",
"protein_id": "ENSP00000507867.1",
"transcript_support_level": null,
"aa_start": 2146,
"aa_end": null,
"aa_length": 2193,
"cds_start": 6437,
"cds_end": null,
"cds_length": 6582,
"cdna_start": 6437,
"cdna_end": null,
"cdna_length": 6582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6416A>G",
"hgvs_p": "p.Asn2139Ser",
"transcript": "ENST00000347598.9",
"protein_id": "ENSP00000266376.6",
"transcript_support_level": 1,
"aa_start": 2139,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6416,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6992,
"cdna_end": null,
"cdna_length": 13888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6395A>G",
"hgvs_p": "p.Asn2132Ser",
"transcript": "ENST00000344100.7",
"protein_id": "ENSP00000341092.3",
"transcript_support_level": 1,
"aa_start": 2132,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6395,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 6395,
"cdna_end": null,
"cdna_length": 6634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6377A>G",
"hgvs_p": "p.Asn2126Ser",
"transcript": "ENST00000327702.12",
"protein_id": "ENSP00000329877.7",
"transcript_support_level": 1,
"aa_start": 2126,
"aa_end": null,
"aa_length": 2173,
"cds_start": 6377,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6953,
"cdna_end": null,
"cdna_length": 13849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6377A>G",
"hgvs_p": "p.Asn2126Ser",
"transcript": "ENST00000399617.6",
"protein_id": "ENSP00000382526.1",
"transcript_support_level": 5,
"aa_start": 2126,
"aa_end": null,
"aa_length": 2173,
"cds_start": 6377,
"cds_end": null,
"cds_length": 6522,
"cdna_start": 6614,
"cdna_end": null,
"cdna_length": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6362A>G",
"hgvs_p": "p.Asn2121Ser",
"transcript": "ENST00000682462.1",
"protein_id": "ENSP00000507105.1",
"transcript_support_level": null,
"aa_start": 2121,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6362,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6550,
"cdna_end": null,
"cdna_length": 7059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6362A>G",
"hgvs_p": "p.Asn2121Ser",
"transcript": "ENST00000683781.1",
"protein_id": "ENSP00000507434.1",
"transcript_support_level": null,
"aa_start": 2121,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6362,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6550,
"cdna_end": null,
"cdna_length": 6750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6362A>G",
"hgvs_p": "p.Asn2121Ser",
"transcript": "ENST00000683840.1",
"protein_id": "ENSP00000507612.1",
"transcript_support_level": null,
"aa_start": 2121,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6362,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6378,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6362A>G",
"hgvs_p": "p.Asn2121Ser",
"transcript": "ENST00000683956.1",
"protein_id": "ENSP00000506882.1",
"transcript_support_level": null,
"aa_start": 2121,
"aa_end": null,
"aa_length": 2168,
"cds_start": 6362,
"cds_end": null,
"cds_length": 6507,
"cdna_start": 6378,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6356A>G",
"hgvs_p": "p.Asn2119Ser",
"transcript": "ENST00000399638.5",
"protein_id": "ENSP00000382547.1",
"transcript_support_level": 1,
"aa_start": 2119,
"aa_end": null,
"aa_length": 2166,
"cds_start": 6356,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 6356,
"cdna_end": null,
"cdna_length": 6595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6347A>G",
"hgvs_p": "p.Asn2116Ser",
"transcript": "ENST00000335762.10",
"protein_id": "ENSP00000336982.5",
"transcript_support_level": 5,
"aa_start": 2116,
"aa_end": null,
"aa_length": 2163,
"cds_start": 6347,
"cds_end": null,
"cds_length": 6492,
"cdna_start": 6902,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6332A>G",
"hgvs_p": "p.Asn2111Ser",
"transcript": "ENST00000399606.5",
"protein_id": "ENSP00000382515.1",
"transcript_support_level": 1,
"aa_start": 2111,
"aa_end": null,
"aa_length": 2158,
"cds_start": 6332,
"cds_end": null,
"cds_length": 6477,
"cdna_start": 6332,
"cdna_end": null,
"cdna_length": 6571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6329A>G",
"hgvs_p": "p.Asn2110Ser",
"transcript": "ENST00000399621.5",
"protein_id": "ENSP00000382530.1",
"transcript_support_level": 1,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2157,
"cds_start": 6329,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6329,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6329A>G",
"hgvs_p": "p.Asn2110Ser",
"transcript": "ENST00000399637.5",
"protein_id": "ENSP00000382546.1",
"transcript_support_level": 1,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2157,
"cds_start": 6329,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6329,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1C",
"gene_hgnc_id": 1390,
"hgvs_c": "c.6329A>G",
"hgvs_p": "p.Asn2110Ser",
"transcript": "ENST00000402845.7",
"protein_id": "ENSP00000385724.3",
"transcript_support_level": 1,
"aa_start": 2110,
"aa_end": null,
"aa_length": 2157,
"cds_start": 6329,
"cds_end": null,
"cds_length": 6474,
"cdna_start": 6329,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"criteria": [
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"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
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"gene_symbol": "CACNA1C",
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"inheritance_mode": "AD",
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"hgvs_p": "p.Asn2139Ser"
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{
"score": -9,
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"criteria": [
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"BP6",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000544517.1",
"gene_symbol": "ITFG2-AS1",
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"effects": [
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"inheritance_mode": "",
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},
{
"score": -9,
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"BP6",
"BS2"
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"verdict": "Benign",
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"gene_symbol": "CACNA1C-AS1",
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],
"clinvar_disease": "CACNA1C-related disorder,Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,Timothy syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2 B:1",
"phenotype_combined": "Timothy syndrome|Cardiovascular phenotype|not provided|Long QT syndrome|Cardiac arrhythmia|CACNA1C-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}