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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: 12-56023144-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56023144&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56023144,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000547167.6",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "NM_022465.4",
"protein_id": "NP_071910.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": "ENST00000547167.6",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "ENST00000547167.6",
"protein_id": "ENSP00000448419.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": "NM_022465.4",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "ENST00000431367.6",
"protein_id": "ENSP00000412101.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5021,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.46+1694A>T",
"hgvs_p": null,
"transcript": "ENST00000547791.2",
"protein_id": "ENSP00000450020.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.-599A>T",
"hgvs_p": null,
"transcript": "XM_047429352.1",
"protein_id": "XP_047285308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5364,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "NM_001351089.2",
"protein_id": "NP_001338018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "ENST00000262032.9",
"protein_id": "ENSP00000262032.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5229,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.46+1694A>T",
"hgvs_p": null,
"transcript": "NM_001351090.1",
"protein_id": "NP_001338019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5227,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.41-1910A>T",
"hgvs_p": null,
"transcript": "NM_001351091.2",
"protein_id": "NP_001338020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5042,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.-126+1564A>T",
"hgvs_p": null,
"transcript": "NM_001351092.2",
"protein_id": "NP_001338021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "n.236-527A>T",
"hgvs_p": null,
"transcript": "ENST00000547668.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "IKZF4",
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"hgvs_c": "n.119-1910A>T",
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"transcript": "ENST00000548601.5",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "n.97-1518A>T",
"hgvs_p": null,
"transcript": "ENST00000549519.5",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IKZF4",
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"hgvs_c": "n.415-1910A>T",
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"transcript": "ENST00000550860.5",
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},
{
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"strand": true,
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],
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"hgvs_c": "n.87+1564A>T",
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"transcript": "ENST00000551103.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "IKZF4",
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"hgvs_c": "n.60-527A>T",
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"transcript": "ENST00000551701.5",
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},
{
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],
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"gene_symbol": "ENSG00000257449",
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"hgvs_c": "n.341+6431T>A",
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"transcript": "ENST00000766735.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105369781",
"gene_hgnc_id": null,
"hgvs_c": "n.63+1885T>A",
"hgvs_p": null,
"transcript": "NR_135023.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 5,
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"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.88-527A>T",
"hgvs_p": null,
"transcript": "XM_017019806.2",
"protein_id": "XP_016875295.1",
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},
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],
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},
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.22-527A>T",
"hgvs_p": null,
"transcript": "XM_011538664.2",
"protein_id": "XP_011536966.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IKZF4",
"gene_hgnc_id": 13179,
"hgvs_c": "c.22-527A>T",
"hgvs_p": null,
"transcript": "XM_017019812.2",
"protein_id": "XP_016875301.1",
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"cds_start": -4,
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},
{
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}