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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: 5-138558559-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138558559&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138558559,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004134.7",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "NM_004134.7",
"protein_id": "NP_004125.3",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 679,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297185.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004134.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000297185.9",
"protein_id": "ENSP00000297185.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 679,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004134.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297185.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1692T>A",
"hgvs_p": "p.Phe564Leu",
"transcript": "ENST00000946847.1",
"protein_id": "ENSP00000616906.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 740,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946847.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1527T>A",
"hgvs_p": "p.Phe509Leu",
"transcript": "ENST00000936338.1",
"protein_id": "ENSP00000606397.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 685,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936338.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1503T>A",
"hgvs_p": "p.Phe501Leu",
"transcript": "ENST00000946842.1",
"protein_id": "ENSP00000616901.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 677,
"cds_start": 1503,
"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": "ENST00000946842.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1500T>A",
"hgvs_p": "p.Phe500Leu",
"transcript": "ENST00000852879.1",
"protein_id": "ENSP00000522938.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 676,
"cds_start": 1500,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852879.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000946845.1",
"protein_id": "ENSP00000616904.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 676,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946845.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000936335.1",
"protein_id": "ENSP00000606394.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 675,
"cds_start": 1509,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936335.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1488T>A",
"hgvs_p": "p.Phe496Leu",
"transcript": "ENST00000946846.1",
"protein_id": "ENSP00000616905.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 672,
"cds_start": 1488,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946846.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000507115.6",
"protein_id": "ENSP00000423759.2",
"transcript_support_level": 3,
"aa_start": 503,
"aa_end": null,
"aa_length": 665,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507115.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1509T>A",
"hgvs_p": "p.Phe503Leu",
"transcript": "ENST00000852881.1",
"protein_id": "ENSP00000522940.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 660,
"cds_start": 1509,
"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": "ENST00000852881.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1416T>A",
"hgvs_p": "p.Phe472Leu",
"transcript": "ENST00000677425.1",
"protein_id": "ENSP00000503066.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 648,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677425.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1302T>A",
"hgvs_p": "p.Phe434Leu",
"transcript": "ENST00000677066.1",
"protein_id": "ENSP00000502902.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 610,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677066.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1302T>A",
"hgvs_p": "p.Phe434Leu",
"transcript": "ENST00000678300.1",
"protein_id": "ENSP00000503259.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 610,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678300.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1302T>A",
"hgvs_p": "p.Phe434Leu",
"transcript": "ENST00000678384.1",
"protein_id": "ENSP00000503992.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 610,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678384.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1299T>A",
"hgvs_p": "p.Phe433Leu",
"transcript": "ENST00000946844.1",
"protein_id": "ENSP00000616903.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 609,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946844.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1281T>A",
"hgvs_p": "p.Phe427Leu",
"transcript": "ENST00000677064.1",
"protein_id": "ENSP00000503373.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 603,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677064.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1203T>A",
"hgvs_p": "p.Phe401Leu",
"transcript": "ENST00000678051.1",
"protein_id": "ENSP00000503219.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 577,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678051.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1188T>A",
"hgvs_p": "p.Phe396Leu",
"transcript": "ENST00000946848.1",
"protein_id": "ENSP00000616907.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 572,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946848.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.1071T>A",
"hgvs_p": "p.Phe357Leu",
"transcript": "ENST00000936340.1",
"protein_id": "ENSP00000606399.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 533,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936340.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.975T>A",
"hgvs_p": "p.Phe325Leu",
"transcript": "ENST00000936337.1",
"protein_id": "ENSP00000606396.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 501,
"cds_start": 975,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936337.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA9",
"gene_hgnc_id": 5244,
"hgvs_c": "c.765T>A",
"hgvs_p": "p.Phe255Leu",
"transcript": "ENST00000936341.1",
"protein_id": "ENSP00000606400.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 431,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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{
"score": 4,
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"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}