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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: 14-64522618-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64522618&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZBTB1",
"hgnc_id": 20259,
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001123329.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HSPA2-AS1",
"hgnc_id": 55433,
"hgvs_c": "n.149-4080A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000554918.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.5686,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23295670747756958,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001123329.2",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683701.1",
"protein_coding": true,
"protein_id": "NP_001116801.1",
"strand": true,
"transcript": "NM_001123329.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3642,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683701.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001123329.2",
"protein_coding": true,
"protein_id": "ENSP00000506911.1",
"strand": true,
"transcript": "ENST00000683701.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000554015.5",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451000.1",
"strand": true,
"transcript": "ENST00000554015.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 644,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4119,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358738.3",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351587.3",
"strand": true,
"transcript": "ENST00000358738.3",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438534.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425463.1",
"strand": true,
"transcript": "NM_001438534.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000865017.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535076.1",
"strand": true,
"transcript": "ENST00000865017.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865018.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535077.1",
"strand": true,
"transcript": "ENST00000865018.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865019.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535078.1",
"strand": true,
"transcript": "ENST00000865019.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865020.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535079.1",
"strand": true,
"transcript": "ENST00000865020.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3885,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865021.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535080.1",
"strand": true,
"transcript": "ENST00000865021.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4438,
"cdna_start": 2410,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865022.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535081.1",
"strand": true,
"transcript": "ENST00000865022.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3827,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865023.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535082.1",
"strand": true,
"transcript": "ENST00000865023.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865024.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535083.1",
"strand": true,
"transcript": "ENST00000865024.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865025.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535084.1",
"strand": true,
"transcript": "ENST00000865025.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865026.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535085.1",
"strand": true,
"transcript": "ENST00000865026.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865027.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535086.1",
"strand": true,
"transcript": "ENST00000865027.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 2667,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000865028.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535087.1",
"strand": true,
"transcript": "ENST00000865028.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3032,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865029.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535088.1",
"strand": true,
"transcript": "ENST00000865029.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000865030.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535089.1",
"strand": true,
"transcript": "ENST00000865030.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Y",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000865031.1",
"gene_hgnc_id": 20259,
"gene_symbol": "ZBTB1",
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535090.1",
"strand": true,
"transcript": "ENST00000865031.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
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