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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: 12-15623289-T-TAAAAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15623289&ref=T&alt=TAAAAA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15623289,
"ref": "T",
"alt": "TAAAAA",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000281172.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-7_2226-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_004447.6",
"protein_id": "NP_004438.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": "ENST00000281172.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000281172.10",
"protein_id": "ENSP00000281172.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": "NM_004447.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "n.*1486-3_*1486-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000543468.5",
"protein_id": "ENSP00000445985.1",
"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": 3722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2277-3_2277-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000642939.1",
"protein_id": "ENSP00000495312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2262-7_2262-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413831.1",
"protein_id": "NP_001400760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2250-3_2250-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000646123.1",
"protein_id": "ENSP00000494338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-7_2226-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413832.1",
"protein_id": "NP_001400761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-7_2226-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413833.1",
"protein_id": "NP_001400762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-7_2226-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413834.1",
"protein_id": "NP_001400763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000543523.5",
"protein_id": "ENSP00000441867.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
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"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000543612.5",
"protein_id": "ENSP00000442388.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"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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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000642278.1",
"protein_id": "ENSP00000494689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000644374.1",
"protein_id": "ENSP00000495956.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
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"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000645775.1",
"protein_id": "ENSP00000495824.1",
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"aa_start": null,
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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": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000646828.1",
"protein_id": "ENSP00000494842.1",
"transcript_support_level": null,
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"feature": null
},
{
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"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000646918.1",
"protein_id": "ENSP00000495722.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000647087.1",
"protein_id": "ENSP00000496406.1",
"transcript_support_level": null,
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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": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.2226-3_2226-2insTTTTT",
"hgvs_p": null,
"transcript": "ENST00000647224.1",
"protein_id": "ENSP00000496516.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
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"gene_symbol": "EPS8",
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"hgvs_c": "c.1986-7_1986-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413835.1",
"protein_id": "NP_001400764.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "EPS8",
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"hgvs_c": "c.1986-7_1986-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413836.1",
"protein_id": "NP_001400765.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.1809-7_1809-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413837.1",
"protein_id": "NP_001400766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.1446-7_1446-3dupTTTTT",
"hgvs_p": null,
"transcript": "NM_001413838.1",
"protein_id": "NP_001400767.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 562,
"cds_start": -4,
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}
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}