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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: 3-128486356-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128486356&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GATA2",
"hgnc_id": 4171,
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_032638.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.1769,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Deafness-lymphedema-leukemia syndrome,Monocytopenia with susceptibility to infections",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.770698070526123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145661.2",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000487848.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139133.1",
"strand": false,
"transcript": "NM_001145661.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_032638.5",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341105.7",
"protein_coding": true,
"protein_id": "NP_116027.2",
"strand": false,
"transcript": "NM_032638.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000341105.7",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032638.5",
"protein_coding": true,
"protein_id": "ENSP00000345681.2",
"strand": false,
"transcript": "ENST00000341105.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000487848.6",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001145661.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417074.1",
"strand": false,
"transcript": "ENST00000487848.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 466,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 493,
"cds_end": null,
"cds_length": 1401,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000430265.6",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400259.2",
"strand": false,
"transcript": "ENST00000430265.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 574,
"aa_ref": "G",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1725,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696466.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Gly175Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512647.1",
"strand": false,
"transcript": "ENST00000696466.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906584.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576643.1",
"strand": false,
"transcript": "ENST00000906584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906585.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576644.1",
"strand": false,
"transcript": "ENST00000906585.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906587.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576646.1",
"strand": false,
"transcript": "ENST00000906587.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906588.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576647.1",
"strand": false,
"transcript": "ENST00000906588.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906589.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576648.1",
"strand": false,
"transcript": "ENST00000906589.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 480,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906590.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576649.1",
"strand": false,
"transcript": "ENST00000906590.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 480,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906591.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576650.1",
"strand": false,
"transcript": "ENST00000906591.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906592.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576651.1",
"strand": false,
"transcript": "ENST00000906592.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906593.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576652.1",
"strand": false,
"transcript": "ENST00000906593.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906594.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576653.1",
"strand": false,
"transcript": "ENST00000906594.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000937284.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607343.1",
"strand": false,
"transcript": "ENST00000937284.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_start": 1027,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962723.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632782.1",
"strand": false,
"transcript": "ENST00000962723.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962724.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632783.1",
"strand": false,
"transcript": "ENST00000962724.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3427,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962725.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632784.1",
"strand": false,
"transcript": "ENST00000962725.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "G",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1443,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962726.1",
"gene_hgnc_id": 4171,
"gene_symbol": "GATA2",
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"intron_rank": null,
"intron_rank_end": null,
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