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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: 11-46672254-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46672254&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46672254,
"ref": "G",
"alt": "C",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000683050.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346311.2",
"protein_id": "NP_001333240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": "ENST00000683050.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "ENST00000683050.1",
"protein_id": "ENSP00000507809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4246,
"mane_select": "NM_001346311.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "ENST00000528494.5",
"protein_id": "ENSP00000432412.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "ENST00000359513.8",
"protein_id": "ENSP00000352500.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1366-1G>C",
"hgvs_p": null,
"transcript": "ENST00000524625.5",
"protein_id": "ENSP00000433543.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001205119.2",
"protein_id": "NP_001192048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346312.2",
"protein_id": "NP_001333241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346313.2",
"protein_id": "NP_001333242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346314.2",
"protein_id": "NP_001333243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346315.2",
"protein_id": "NP_001333244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1576-1G>C",
"hgvs_p": null,
"transcript": "NM_001346316.2",
"protein_id": "NP_001333245.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATG13",
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"hgvs_c": "c.1549-1G>C",
"hgvs_p": null,
"transcript": "NM_001346317.2",
"protein_id": "NP_001333246.1",
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
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"gene_symbol": "ATG13",
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"transcript": "NM_001346318.2",
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},
{
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
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"gene_symbol": "ATG13",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "NM_001205120.2",
"protein_id": "NP_001192049.1",
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"aa_start": null,
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"feature": null
},
{
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 19,
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"gene_symbol": "ATG13",
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},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
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"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "NM_001346320.2",
"protein_id": "NP_001333249.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "NM_001346321.2",
"protein_id": "NP_001333250.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 19,
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"gene_symbol": "ATG13",
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},
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"intron_variant"
],
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
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"hgvs_c": "c.1477-1G>C",
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"protein_id": "NP_001333252.1",
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},
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"strand": true,
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"intron_variant"
],
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"intron_rank": 17,
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"gene_symbol": "ATG13",
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"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "NM_001346324.2",
"protein_id": "NP_001333253.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG13",
"gene_hgnc_id": 29091,
"hgvs_c": "c.1477-1G>C",
"hgvs_p": null,
"transcript": "NM_001346325.2",
"protein_id": "NP_001333254.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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"intron_variant"
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}