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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: 5-177292132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177292132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NSD1",
"hgnc_id": 14234,
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_022455.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9939414262771606,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": 6634,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_022455.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000439151.7",
"protein_coding": true,
"protein_id": "NP_071900.2",
"strand": true,
"transcript": "NM_022455.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": 6634,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000439151.7",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022455.5",
"protein_coding": true,
"protein_id": "ENSP00000395929.2",
"strand": true,
"transcript": "ENST00000439151.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2405,
"aa_ref": "C",
"aa_start": 1855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7688,
"cdna_start": 5731,
"cds_end": null,
"cds_length": 7218,
"cds_start": 5564,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000347982.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343209.5",
"strand": true,
"transcript": "ENST00000347982.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12999,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001409301.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396230.1",
"strand": true,
"transcript": "NM_001409301.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13002,
"cdna_start": 6594,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001409302.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396231.1",
"strand": true,
"transcript": "NM_001409302.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12897,
"cdna_start": 6489,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001409303.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396232.1",
"strand": true,
"transcript": "NM_001409303.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 6602,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000936190.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606249.1",
"strand": true,
"transcript": "ENST00000936190.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2696,
"aa_ref": "C",
"aa_start": 2146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": 6513,
"cds_end": null,
"cds_length": 8091,
"cds_start": 6437,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000936191.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6437G>A",
"hgvs_p": "p.Cys2146Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606250.1",
"strand": true,
"transcript": "ENST00000936191.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2593,
"aa_ref": "C",
"aa_start": 2043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8098,
"cdna_start": 6146,
"cds_end": null,
"cds_length": 7782,
"cds_start": 6128,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687453.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6128G>A",
"hgvs_p": "p.Cys2043Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508426.1",
"strand": true,
"transcript": "ENST00000687453.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2556,
"aa_ref": "C",
"aa_start": 2006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12579,
"cdna_start": 6171,
"cds_end": null,
"cds_length": 7671,
"cds_start": 6017,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001409304.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.6017G>A",
"hgvs_p": "p.Cys2006Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396233.1",
"strand": true,
"transcript": "NM_001409304.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2445,
"aa_ref": "C",
"aa_start": 1895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12379,
"cdna_start": 5971,
"cds_end": null,
"cds_length": 7338,
"cds_start": 5684,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001409305.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5684G>A",
"hgvs_p": "p.Cys1895Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396234.1",
"strand": true,
"transcript": "NM_001409305.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 2442,
"aa_ref": "C",
"aa_start": 1892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 5962,
"cds_end": null,
"cds_length": 7329,
"cds_start": 5675,
"consequences": [
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],
"exon_count": 25,
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"exon_rank_end": null,
"feature": "NM_001409306.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5675G>A",
"hgvs_p": "p.Cys1892Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396235.1",
"strand": true,
"transcript": "NM_001409306.1",
"transcript_support_level": null
},
{
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"aa_ref": "C",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5965,
"cds_end": null,
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"cds_start": 5675,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001409307.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5675G>A",
"hgvs_p": "p.Cys1892Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396236.1",
"strand": true,
"transcript": "NM_001409307.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2405,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12232,
"cdna_start": 5824,
"cds_end": null,
"cds_length": 7218,
"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001365684.2",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352613.2",
"strand": true,
"transcript": "NM_001365684.2",
"transcript_support_level": null
},
{
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"aa_ref": "C",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 12259,
"cdna_start": 5851,
"cds_end": null,
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"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001409308.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001396237.1",
"strand": true,
"transcript": "NM_001409308.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2405,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12262,
"cdna_start": 5854,
"cds_end": null,
"cds_length": 7218,
"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_172349.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_758859.2",
"strand": true,
"transcript": "NM_172349.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5790,
"cds_end": null,
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"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000354179.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346111.5",
"strand": true,
"transcript": "ENST00000354179.9",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": 5819,
"cds_end": null,
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"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000508896.7",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423372.3",
"strand": true,
"transcript": "ENST00000508896.7",
"transcript_support_level": 3
},
{
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"aa_ref": "C",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5749,
"cds_end": null,
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"cds_start": 5564,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000686993.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510020.1",
"strand": true,
"transcript": "ENST00000686993.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2405,
"aa_ref": "C",
"aa_start": 1855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12113,
"cdna_start": 5767,
"cds_end": null,
"cds_length": 7218,
"cds_start": 5564,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000689345.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5564G>A",
"hgvs_p": "p.Cys1855Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509711.1",
"strand": true,
"transcript": "ENST00000689345.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2322,
"aa_ref": "C",
"aa_start": 1772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11908,
"cdna_start": 5500,
"cds_end": null,
"cds_length": 6969,
"cds_start": 5315,
"consequences": [
"missense_variant"
],
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}