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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: 2-27364467-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27364467&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF2B4",
"hgnc_id": 3260,
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Thr523Arg",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001318965.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GTF3C2-AS2",
"hgnc_id": 55699,
"hgvs_c": "n.238-2957G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000412749.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9791,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9863357543945312,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001034116.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Thr502Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347454.9",
"protein_coding": true,
"protein_id": "NP_001029288.1",
"strand": false,
"transcript": "NM_001034116.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1505,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000347454.9",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1505C>G",
"hgvs_p": "p.Thr502Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001034116.2",
"protein_coding": true,
"protein_id": "ENSP00000233552.6",
"strand": false,
"transcript": "ENST00000347454.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000451130.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1565C>G",
"hgvs_p": "p.Thr522Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394869.2",
"strand": false,
"transcript": "ENST00000451130.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000445933.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Thr501Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394397.2",
"strand": false,
"transcript": "ENST00000445933.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000405940.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "n.*771C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384375.2",
"strand": false,
"transcript": "ENST00000405940.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000405940.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "n.*771C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000384375.2",
"strand": false,
"transcript": "ENST00000405940.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 550,
"aa_ref": "T",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945158.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1586C>G",
"hgvs_p": "p.Thr529Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615217.1",
"strand": false,
"transcript": "ENST00000945158.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 544,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001318965.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Thr523Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305894.1",
"strand": false,
"transcript": "NM_001318965.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 544,
"aa_ref": "T",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1568,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000493344.6",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1568C>G",
"hgvs_p": "p.Thr523Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429323.1",
"strand": false,
"transcript": "ENST00000493344.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_172195.4",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1565C>G",
"hgvs_p": "p.Thr522Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_751945.2",
"strand": false,
"transcript": "NM_172195.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1541,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000920939.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1541C>G",
"hgvs_p": "p.Thr514Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590998.1",
"strand": false,
"transcript": "ENST00000920939.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "T",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945157.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1526C>G",
"hgvs_p": "p.Thr509Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615216.1",
"strand": false,
"transcript": "ENST00000945157.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945155.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1523C>G",
"hgvs_p": "p.Thr508Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615214.1",
"strand": false,
"transcript": "ENST00000945155.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015636.4",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Thr501Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056451.3",
"strand": false,
"transcript": "NM_015636.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000920928.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Thr501Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590987.1",
"strand": false,
"transcript": "ENST00000920928.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 522,
"aa_ref": "T",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1502,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000920929.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1502C>G",
"hgvs_p": "p.Thr501Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590988.1",
"strand": false,
"transcript": "ENST00000920929.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 521,
"aa_ref": "T",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1499,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000920931.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Thr500Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590990.1",
"strand": false,
"transcript": "ENST00000920931.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 521,
"aa_ref": "T",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1499,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945153.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1499C>G",
"hgvs_p": "p.Thr500Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615212.1",
"strand": false,
"transcript": "ENST00000945153.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 508,
"aa_ref": "T",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1822,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1460,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001318966.2",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1460C>G",
"hgvs_p": "p.Thr487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305895.1",
"strand": false,
"transcript": "NM_001318966.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945152.1",
"gene_hgnc_id": 3260,
"gene_symbol": "EIF2B4",
"hgvs_c": "c.1457C>G",
"hgvs_p": "p.Thr486Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615211.1",
"strand": false,
"transcript": "ENST00000945152.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 492,
"aa_ref": "T",
"aa_start": 471,
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