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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: 15-43403775-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43403775&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43403775,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001286414.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Ala608Ala",
"transcript": "NM_014444.5",
"protein_id": "NP_055259.2",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 666,
"cds_start": 1824,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000564079.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014444.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Ala608Ala",
"transcript": "ENST00000564079.6",
"protein_id": "ENSP00000456648.2",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 666,
"cds_start": 1824,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014444.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564079.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Ala609Ala",
"transcript": "ENST00000260383.11",
"protein_id": "ENSP00000260383.7",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 667,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260383.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.*3608G>A",
"hgvs_p": null,
"transcript": "NM_001141980.3",
"protein_id": "NP_001135452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382044.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141980.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.*3608G>A",
"hgvs_p": null,
"transcript": "ENST00000382044.9",
"protein_id": "ENSP00000371475.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": null,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001141980.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382044.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "n.*453C>T",
"hgvs_p": null,
"transcript": "ENST00000561691.5",
"protein_id": "ENSP00000455474.1",
"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": "ENST00000561691.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "n.*453C>T",
"hgvs_p": null,
"transcript": "ENST00000561691.5",
"protein_id": "ENSP00000455474.1",
"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": "ENST00000561691.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Ala609Ala",
"transcript": "NM_001286414.3",
"protein_id": "NP_001273343.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 667,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286414.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Ala606Ala",
"transcript": "ENST00000852301.1",
"protein_id": "ENSP00000522360.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 664,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852301.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1806C>T",
"hgvs_p": "p.Ala602Ala",
"transcript": "ENST00000966488.1",
"protein_id": "ENSP00000636547.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 660,
"cds_start": 1806,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966488.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1803C>T",
"hgvs_p": "p.Ala601Ala",
"transcript": "ENST00000966489.1",
"protein_id": "ENSP00000636548.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 659,
"cds_start": 1803,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966489.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1791C>T",
"hgvs_p": "p.Ala597Ala",
"transcript": "ENST00000938500.1",
"protein_id": "ENSP00000608559.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 655,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938500.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Ala592Ala",
"transcript": "ENST00000852303.1",
"protein_id": "ENSP00000522362.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 650,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852303.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Ala591Ala",
"transcript": "ENST00000852302.1",
"protein_id": "ENSP00000522361.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 649,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852302.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Ala564Ala",
"transcript": "ENST00000852304.1",
"protein_id": "ENSP00000522363.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 622,
"cds_start": 1692,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852304.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Ala563Ala",
"transcript": "ENST00000966490.1",
"protein_id": "ENSP00000636549.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 621,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966490.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Ala495Ala",
"transcript": "ENST00000938499.1",
"protein_id": "ENSP00000608558.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 553,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938499.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.138C>T",
"hgvs_p": "p.Ala46Ala",
"transcript": "ENST00000565548.1",
"protein_id": "ENSP00000456550.1",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 105,
"cds_start": 138,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565548.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1776C>T",
"hgvs_p": "p.Ala592Ala",
"transcript": "XM_047432390.1",
"protein_id": "XP_047288346.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 650,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432390.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Ala591Ala",
"transcript": "XM_047432391.1",
"protein_id": "XP_047288347.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 649,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432391.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBGCP4",
"gene_hgnc_id": 16691,
"hgvs_c": "c.1419C>T",
"hgvs_p": "p.Ala473Ala",
"transcript": "XM_011521455.3",
"protein_id": "XP_011519757.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 531,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521455.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.*3608G>A",
"hgvs_p": null,
"transcript": "NM_001141979.3",
"protein_id": "NP_001135451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1975,
"cds_start": null,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -7,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -7,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001286414.3",
"gene_symbol": "TUBGCP4",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala609Ala"
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{
"score": -10,
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"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001141980.3",
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"effects": [
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}