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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: 9-137776636-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137776636&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137776636,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_024757.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"transcript": "NM_024757.5",
"protein_id": "NP_079033.4",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1810,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000460843.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024757.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"transcript": "ENST00000460843.6",
"protein_id": "ENSP00000417980.1",
"transcript_support_level": 5,
"aa_start": 604,
"aa_end": null,
"aa_length": 1298,
"cds_start": 1810,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024757.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460843.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"transcript": "ENST00000462484.5",
"protein_id": "ENSP00000417328.1",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 808,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462484.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Gln628*",
"transcript": "ENST00000896765.1",
"protein_id": "ENSP00000566824.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 1322,
"cds_start": 1882,
"cds_end": null,
"cds_length": 3969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896765.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Gln597*",
"transcript": "NM_001354263.2",
"protein_id": "NP_001341192.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1291,
"cds_start": 1789,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354263.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1786C>T",
"hgvs_p": "p.Gln596*",
"transcript": "ENST00000896763.1",
"protein_id": "ENSP00000566822.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1290,
"cds_start": 1786,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896763.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Gln571*",
"transcript": "ENST00000918862.1",
"protein_id": "ENSP00000588921.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1276,
"cds_start": 1711,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918862.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Gln573*",
"transcript": "ENST00000637161.1",
"protein_id": "ENSP00000490328.1",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1717,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637161.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Gln571*",
"transcript": "ENST00000896761.1",
"protein_id": "ENSP00000566820.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1711,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896761.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1708C>T",
"hgvs_p": "p.Gln570*",
"transcript": "ENST00000896762.1",
"protein_id": "ENSP00000566821.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1264,
"cds_start": 1708,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896762.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"transcript": "ENST00000896766.1",
"protein_id": "ENSP00000566825.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1810,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896766.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Gln571*",
"transcript": "ENST00000918863.1",
"protein_id": "ENSP00000588922.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1251,
"cds_start": 1711,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918863.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1711C>T",
"hgvs_p": "p.Gln571*",
"transcript": "ENST00000918861.1",
"protein_id": "ENSP00000588920.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1224,
"cds_start": 1711,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918861.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1696C>T",
"hgvs_p": "p.Gln566*",
"transcript": "ENST00000636027.1",
"protein_id": "ENSP00000489961.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 980,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636027.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Gln573*",
"transcript": "NM_001354259.2",
"protein_id": "NP_001341188.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 825,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354259.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1810C>T",
"hgvs_p": "p.Gln604*",
"transcript": "NM_001145527.2",
"protein_id": "NP_001138999.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 808,
"cds_start": 1810,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145527.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Gln327*",
"transcript": "ENST00000640639.1",
"protein_id": "ENSP00000491823.1",
"transcript_support_level": 5,
"aa_start": 327,
"aa_end": null,
"aa_length": 393,
"cds_start": 979,
"cds_end": null,
"cds_length": 1183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640639.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.358C>T",
"hgvs_p": "p.Gln120*",
"transcript": "ENST00000465566.2",
"protein_id": "ENSP00000486261.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 166,
"cds_start": 358,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465566.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1819C>T",
"hgvs_p": "p.Gln607*",
"transcript": "XM_011519021.4",
"protein_id": "XP_011517323.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 1301,
"cds_start": 1819,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519021.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1816C>T",
"hgvs_p": "p.Gln606*",
"transcript": "XM_011519022.4",
"protein_id": "XP_011517324.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 1300,
"cds_start": 1816,
"cds_end": null,
"cds_length": 3903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519022.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1801C>T",
"hgvs_p": "p.Gln601*",
"transcript": "XM_047423872.1",
"protein_id": "XP_047279828.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1295,
"cds_start": 1801,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423872.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHMT1",
"gene_hgnc_id": 24650,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Gln600*",
"transcript": "XM_011519023.4",
"protein_id": "XP_011517325.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1798,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1 O:1",
"phenotype_combined": "Kleefstra syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}