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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: 17-42708030-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42708030&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42708030,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321079.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "NM_001991.5",
"protein_id": "NP_001982.2",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 747,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428826.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001991.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "ENST00000428826.7",
"protein_id": "ENSP00000404658.1",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 747,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001991.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428826.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1561C>A",
"hgvs_p": "p.Pro521Thr",
"transcript": "ENST00000415827.6",
"protein_id": "ENSP00000407869.2",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 738,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415827.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.820C>A",
"hgvs_p": null,
"transcript": "ENST00000585550.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585550.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.1468C>A",
"hgvs_p": null,
"transcript": "ENST00000585912.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000585912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.*638C>A",
"hgvs_p": null,
"transcript": "ENST00000588239.5",
"protein_id": "ENSP00000468640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588239.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.1596C>A",
"hgvs_p": null,
"transcript": "ENST00000591330.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "n.*638C>A",
"hgvs_p": null,
"transcript": "ENST00000588239.5",
"protein_id": "ENSP00000468640.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588239.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1606C>A",
"hgvs_p": "p.Pro536Thr",
"transcript": "NM_001321079.2",
"protein_id": "NP_001308008.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 753,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321079.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Pro533Thr",
"transcript": "ENST00000939633.1",
"protein_id": "ENSP00000609692.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 750,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939633.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1594C>A",
"hgvs_p": "p.Pro532Thr",
"transcript": "ENST00000909310.1",
"protein_id": "ENSP00000579369.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 749,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909310.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1591C>A",
"hgvs_p": "p.Pro531Thr",
"transcript": "ENST00000909307.1",
"protein_id": "ENSP00000579366.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 748,
"cds_start": 1591,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909307.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "ENST00000592743.5",
"protein_id": "ENSP00000466924.1",
"transcript_support_level": 2,
"aa_start": 530,
"aa_end": null,
"aa_length": 747,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592743.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "ENST00000909311.1",
"protein_id": "ENSP00000579370.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 747,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909311.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1561C>A",
"hgvs_p": "p.Pro521Thr",
"transcript": "NM_001321081.2",
"protein_id": "NP_001308010.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 738,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321081.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "ENST00000939634.1",
"protein_id": "ENSP00000609693.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 723,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939634.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1588C>A",
"hgvs_p": "p.Pro530Thr",
"transcript": "ENST00000966142.1",
"protein_id": "ENSP00000636201.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 715,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966142.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1561C>A",
"hgvs_p": "p.Pro521Thr",
"transcript": "ENST00000909306.1",
"protein_id": "ENSP00000579365.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 714,
"cds_start": 1561,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909306.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1468C>A",
"hgvs_p": "p.Pro490Thr",
"transcript": "NM_001321082.2",
"protein_id": "NP_001308011.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 707,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321082.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1468C>A",
"hgvs_p": "p.Pro490Thr",
"transcript": "ENST00000585893.5",
"protein_id": "ENSP00000467871.1",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 707,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585893.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1378C>A",
"hgvs_p": "p.Pro460Thr",
"transcript": "ENST00000590078.5",
"protein_id": "ENSP00000465220.1",
"transcript_support_level": 2,
"aa_start": 460,
"aa_end": null,
"aa_length": 677,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590078.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH1",
"gene_hgnc_id": 3526,
"hgvs_c": "c.1321C>A",
"hgvs_p": "p.Pro441Thr",
"transcript": "ENST00000966141.1",
"protein_id": "ENSP00000636200.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 658,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
"message": null
}