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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: 3-10994938-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10994938&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10994938,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000287766.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-216+2009C>T",
"hgvs_p": null,
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-216+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-155+2009C>T",
"hgvs_p": null,
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-26+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-1223+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-212+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-335+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-155+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-406+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-268+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": -4,
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"cdna_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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-373+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-154+2009C>T",
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"transcript": "ENST00000645592.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-533+2009C>T",
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"transcript": "ENST00000645974.1",
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},
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],
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-88+2009C>T",
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"transcript": "ENST00000646022.1",
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},
{
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],
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-525+2009C>T",
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},
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],
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-216+2633C>T",
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"transcript": "ENST00000646702.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-369+2009C>T",
"hgvs_p": null,
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "SLC6A1",
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"hgvs_c": "c.-216+2009C>T",
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"transcript": "ENST00000646487.1",
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},
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.-428+2009C>T",
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"transcript": "NM_001348252.2",
"protein_id": "NP_001335181.1",
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