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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: 10-111011751-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=111011751&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SHOC2",
"hgnc_id": 15454,
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_007373.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.8293,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "RASopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7809730768203735,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_007373.4",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369452.9",
"protein_coding": true,
"protein_id": "NP_031399.2",
"strand": true,
"transcript": "NM_007373.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000369452.9",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007373.4",
"protein_coding": true,
"protein_id": "ENSP00000358464.5",
"strand": true,
"transcript": "ENST00000369452.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001324336.2",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311265.1",
"strand": true,
"transcript": "NM_001324336.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4069,
"cdna_start": 2155,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001324337.2",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311266.1",
"strand": true,
"transcript": "NM_001324337.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001441184.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428113.1",
"strand": true,
"transcript": "NM_001441184.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001441185.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428114.1",
"strand": true,
"transcript": "NM_001441185.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6542,
"cdna_start": 2022,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000685059.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510210.1",
"strand": true,
"transcript": "ENST00000685059.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5731,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000688928.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509273.1",
"strand": true,
"transcript": "ENST00000688928.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000689118.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510554.1",
"strand": true,
"transcript": "ENST00000689118.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6021,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000689300.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510639.1",
"strand": true,
"transcript": "ENST00000689300.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5805,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000691369.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509754.1",
"strand": true,
"transcript": "ENST00000691369.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 582,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7727,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000691441.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509686.1",
"strand": true,
"transcript": "ENST00000691441.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 2050,
"cds_end": null,
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"cds_start": 1682,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902509.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572568.1",
"strand": true,
"transcript": "ENST00000902509.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902510.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572569.1",
"strand": true,
"transcript": "ENST00000902510.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3914,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902511.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572570.1",
"strand": true,
"transcript": "ENST00000902511.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 582,
"aa_ref": "V",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 2862,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902512.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572571.1",
"strand": true,
"transcript": "ENST00000902512.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 582,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2040,
"cds_end": null,
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"cds_start": 1682,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000927906.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597965.1",
"strand": true,
"transcript": "ENST00000927906.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000947765.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1682T>C",
"hgvs_p": "p.Val561Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617824.1",
"strand": true,
"transcript": "ENST00000947765.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001269039.3",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1544T>C",
"hgvs_p": "p.Val515Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001255968.1",
"strand": true,
"transcript": "NM_001269039.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 536,
"aa_ref": "V",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3931,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001441186.1",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
"hgvs_c": "c.1544T>C",
"hgvs_p": "p.Val515Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428115.1",
"strand": true,
"transcript": "NM_001441186.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 536,
"aa_ref": "V",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000265277.10",
"gene_hgnc_id": 15454,
"gene_symbol": "SHOC2",
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