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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: 5-177503768-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177503768&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177503768,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000510898.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001308236.3",
"protein_id": "NP_001295165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "ENST00000510898.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "ENST00000510898.7",
"protein_id": "ENSP00000424726.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": "NM_001308236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.646-376G>A",
"hgvs_p": null,
"transcript": "ENST00000312943.10",
"protein_id": "ENSP00000325174.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": -4,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "n.915-376G>A",
"hgvs_p": null,
"transcript": "ENST00000500323.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001308235.3",
"protein_id": "NP_001295164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001375794.1",
"protein_id": "NP_001362723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001375795.1",
"protein_id": "NP_001362724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
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"cds_length": 1323,
"cdna_start": null,
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"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001375796.1",
"protein_id": "NP_001362725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK3",
"gene_hgnc_id": 24583,
"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001375797.2",
"protein_id": "NP_001362726.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": -4,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "DOK3",
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"hgvs_c": "c.*215G>A",
"hgvs_p": null,
"transcript": "NM_001384137.1",
"protein_id": "NP_001371066.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "DOK3",
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"hgvs_c": "c.*215G>A",
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"transcript": "NM_024872.4",
"protein_id": "NP_079148.3",
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},
{
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],
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"gene_symbol": "DOK3",
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"transcript": "ENST00000357198.9",
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},
{
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],
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"gene_symbol": "DOK3",
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},
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],
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"gene_symbol": "DOK3",
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},
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],
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},
{
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"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "DOK3",
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},
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],
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"transcript": "NM_001375798.1",
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},
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],
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"gene_symbol": "DOK3",
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"hgvs_c": "c.646-376G>A",
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"transcript": "NM_001375799.2",
"protein_id": "NP_001362728.1",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "DOK3",
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"hgvs_c": "c.340-376G>A",
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},
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],
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},
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],
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"gene_symbol": "DOK3",
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"hgvs_c": "c.646-376G>A",
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"transcript": "XM_047417773.1",
"protein_id": "XP_047273729.1",
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "DOK3",
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"hgvs_c": "c.646-376G>A",
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"transcript": "XM_047417774.1",
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},
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{
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}
],
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}