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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: 12-15669817-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15669817&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15669817,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000281172.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_004447.6",
"protein_id": "NP_004438.3",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": "ENST00000281172.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000281172.10",
"protein_id": "ENSP00000281172.5",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 462,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "n.213T>C",
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.264T>C",
"hgvs_p": "p.Thr88Thr",
"transcript": "ENST00000642939.1",
"protein_id": "ENSP00000495312.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 839,
"cds_start": 264,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413831.1",
"protein_id": "NP_001400760.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 834,
"cds_start": 213,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000646123.1",
"protein_id": "ENSP00000494338.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 830,
"cds_start": 213,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413832.1",
"protein_id": "NP_001400761.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413833.1",
"protein_id": "NP_001400762.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413834.1",
"protein_id": "NP_001400763.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000543523.5",
"protein_id": "ENSP00000441867.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000543612.5",
"protein_id": "ENSP00000442388.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000642278.1",
"protein_id": "ENSP00000494689.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000644374.1",
"protein_id": "ENSP00000495956.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000645775.1",
"protein_id": "ENSP00000495824.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000646828.1",
"protein_id": "ENSP00000494842.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000646918.1",
"protein_id": "ENSP00000495722.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 4576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000647087.1",
"protein_id": "ENSP00000496406.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000647224.1",
"protein_id": "ENSP00000496516.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 822,
"cds_start": 213,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413839.1",
"protein_id": "NP_001400768.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 517,
"cds_start": 213,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "NM_001413840.1",
"protein_id": "NP_001400769.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 245,
"cds_start": 213,
"cds_end": null,
"cds_length": 738,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 1298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000546311.5",
"protein_id": "ENSP00000445235.1",
"transcript_support_level": 4,
"aa_start": 71,
"aa_end": null,
"aa_length": 127,
"cds_start": 213,
"cds_end": null,
"cds_length": 384,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"transcript": "ENST00000535752.5",
"protein_id": "ENSP00000440591.1",
"transcript_support_level": 4,
"aa_start": 71,
"aa_end": null,
"aa_length": 119,
"cds_start": 213,
"cds_end": null,
"cds_length": 362,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.273T>C",
"hgvs_p": "p.Thr91Thr",
"transcript": "XM_047428494.1",
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
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}