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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: 12-53192849-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53192849&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53192849,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000267082.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_000889.3",
"protein_id": "NP_000880.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": "ENST00000267082.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "ENST00000267082.10",
"protein_id": "ENSP00000267082.4",
"transcript_support_level": 1,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": "NM_000889.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF740",
"gene_hgnc_id": 27465,
"hgvs_c": "c.*5259G>A",
"hgvs_p": null,
"transcript": "NM_001004304.4",
"protein_id": "NP_001004304.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8557,
"mane_select": "ENST00000416904.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF740",
"gene_hgnc_id": 27465,
"hgvs_c": "c.*5259G>A",
"hgvs_p": null,
"transcript": "ENST00000416904.5",
"protein_id": "ENSP00000409463.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8557,
"mane_select": "NM_001004304.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414156.1",
"protein_id": "NP_001401085.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414157.1",
"protein_id": "NP_001401086.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414158.1",
"protein_id": "NP_001401087.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414159.1",
"protein_id": "NP_001401088.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 2095,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414160.1",
"protein_id": "NP_001401089.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414161.1",
"protein_id": "NP_001401090.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "ENST00000422257.7",
"protein_id": "ENSP00000408741.3",
"transcript_support_level": 5,
"aa_start": 596,
"aa_end": null,
"aa_length": 798,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414162.1",
"protein_id": "NP_001401091.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 782,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414163.1",
"protein_id": "NP_001401092.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 782,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1788C>T",
"hgvs_p": "p.Cys596Cys",
"transcript": "NM_001414164.1",
"protein_id": "NP_001401093.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 782,
"cds_start": 1788,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Cys564Cys",
"transcript": "NM_001414165.1",
"protein_id": "NP_001401094.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 766,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Cys564Cys",
"transcript": "NM_001414166.1",
"protein_id": "NP_001401095.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 766,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Cys564Cys",
"transcript": "NM_001414167.1",
"protein_id": "NP_001401096.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 766,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Cys439Cys",
"transcript": "NM_001414173.1",
"protein_id": "NP_001401102.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 641,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1503-311C>T",
"hgvs_p": null,
"transcript": "NM_001414169.1",
"protein_id": "NP_001401098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1503-311C>T",
"hgvs_p": null,
"transcript": "NM_001414170.1",
"protein_id": "NP_001401099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1503-311C>T",
"hgvs_p": null,
"transcript": "NM_001414171.1",
"protein_id": "NP_001401100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2239,
"mane_select": null,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1503-311C>T",
"hgvs_p": null,
"transcript": "NM_001414172.1",
"protein_id": "NP_001401101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": -4,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ITGB7",
"gene_hgnc_id": 6162,
"hgvs_c": "c.1503-311C>T",
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}
],
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}