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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: 1-92665959-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92665959&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EVI5",
"hgnc_id": 3501,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001350197.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": 0.8657,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "EVI5-related disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8218909502029419,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7795,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350197.2",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684568.2",
"protein_coding": true,
"protein_id": "NP_001337126.1",
"strand": false,
"transcript": "NM_001350197.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7795,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000684568.2",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001350197.2",
"protein_coding": true,
"protein_id": "ENSP00000506999.1",
"strand": false,
"transcript": "ENST00000684568.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000540033.3",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440826.2",
"strand": false,
"transcript": "ENST00000540033.3",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000370331.5",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359356.1",
"strand": false,
"transcript": "ENST00000370331.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8056,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000706846.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516588.1",
"strand": false,
"transcript": "ENST00000706846.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4360,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948805.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618864.1",
"strand": false,
"transcript": "ENST00000948805.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000948806.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618865.1",
"strand": false,
"transcript": "ENST00000948806.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 826,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4299,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2481,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948814.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618873.1",
"strand": false,
"transcript": "ENST00000948814.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 821,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7442,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001308248.2",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295177.1",
"strand": false,
"transcript": "NM_001308248.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8230,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001377210.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364139.1",
"strand": false,
"transcript": "NM_001377210.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 818,
"aa_ref": "R",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000706843.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516584.1",
"strand": false,
"transcript": "ENST00000706843.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 812,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948811.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618870.1",
"strand": false,
"transcript": "ENST00000948811.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 810,
"aa_ref": "R",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7409,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1324,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005665.6",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Arg442Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005656.4",
"strand": false,
"transcript": "NM_005665.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 799,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3903,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948813.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618872.1",
"strand": false,
"transcript": "ENST00000948813.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000933839.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603898.1",
"strand": false,
"transcript": "ENST00000933839.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 781,
"aa_ref": "R",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7389,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 2346,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000706885.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1057C>T",
"hgvs_p": "p.Arg353Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516601.1",
"strand": false,
"transcript": "ENST00000706885.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 780,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7657,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001377211.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364140.1",
"strand": false,
"transcript": "NM_001377211.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 777,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7648,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001377212.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364141.1",
"strand": false,
"transcript": "NM_001377212.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 768,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7886,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001377213.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364142.1",
"strand": false,
"transcript": "NM_001377213.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000706867.1",
"gene_hgnc_id": 3501,
"gene_symbol": "EVI5",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516594.1",
"strand": false,
"transcript": "ENST00000706867.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7656,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000933837.1",
"gene_hgnc_id": 3501,
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