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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: 5-177269689-CTTTTTTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177269689&ref=CTTTTTTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "NSD1",
"hgnc_id": 14234,
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_022455.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Sotos syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": 5589,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_022455.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13042,
"cdna_start": 5589,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000439151.7",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7688,
"cdna_start": 4686,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000347982.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12999,
"cdna_start": 5546,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001409301.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13002,
"cdna_start": 5549,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001409302.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12897,
"cdna_start": 5444,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001409303.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8554,
"cdna_start": 5557,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936190.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2696,
"aa_ref": "FFG",
"aa_start": 1798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": 5468,
"cds_end": null,
"cds_length": 8091,
"cds_start": 5392,
"consequences": [
"frameshift_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936191.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5392_5398delTTTTTTG",
"hgvs_p": "p.Phe1798fs",
"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": null,
"aa_end": null,
"aa_length": 2593,
"aa_ref": "FFG",
"aa_start": 1695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8098,
"cdna_start": 5101,
"cds_end": null,
"cds_length": 7782,
"cds_start": 5083,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000687453.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.5083_5089delTTTTTTG",
"hgvs_p": "p.Phe1695fs",
"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": null,
"aa_end": null,
"aa_length": 2556,
"aa_ref": "FFG",
"aa_start": 1658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12579,
"cdna_start": 5126,
"cds_end": null,
"cds_length": 7671,
"cds_start": 4972,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001409304.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4972_4978delTTTTTTG",
"hgvs_p": "p.Phe1658fs",
"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": null,
"aa_end": null,
"aa_length": 2445,
"aa_ref": "FFG",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12379,
"cdna_start": 4926,
"cds_end": null,
"cds_length": 7338,
"cds_start": 4639,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001409305.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4639_4645delTTTTTTG",
"hgvs_p": "p.Phe1547fs",
"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": null,
"aa_end": null,
"aa_length": 2442,
"aa_ref": "FFG",
"aa_start": 1544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 4917,
"cds_end": null,
"cds_length": 7329,
"cds_start": 4630,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001409306.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4630_4636delTTTTTTG",
"hgvs_p": "p.Phe1544fs",
"intron_rank": null,
"intron_rank_end": null,
"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_end": null,
"aa_length": 2442,
"aa_ref": "FFG",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12373,
"cdna_start": 4920,
"cds_end": null,
"cds_length": 7329,
"cds_start": 4630,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001409307.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4630_4636delTTTTTTG",
"hgvs_p": "p.Phe1544fs",
"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": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12232,
"cdna_start": 4779,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001365684.2",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"intron_rank": null,
"intron_rank_end": null,
"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_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12259,
"cdna_start": 4806,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001409308.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"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": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12262,
"cdna_start": 4809,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_172349.5",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"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": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12136,
"cdna_start": 4745,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000354179.9",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346111.5",
"strand": true,
"transcript": "ENST00000354179.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 2405,
"aa_ref": "FFG",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12227,
"cdna_start": 4774,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000508896.7",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423372.3",
"strand": true,
"transcript": "ENST00000508896.7",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_ref": "FFG",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12157,
"cdna_start": 4704,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000686993.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"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": null,
"aa_end": null,
"aa_length": 2405,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12113,
"cdna_start": 4722,
"cds_end": null,
"cds_length": 7218,
"cds_start": 4519,
"consequences": [
"frameshift_variant"
],
"exon_count": 24,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000689345.1",
"gene_hgnc_id": 14234,
"gene_symbol": "NSD1",
"hgvs_c": "c.4519_4525delTTTTTTG",
"hgvs_p": "p.Phe1507fs",
"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": null,
"aa_end": null,
"aa_length": 2322,
"aa_ref": "FFG",
"aa_start": 1507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11908,
"cdna_start": 4704,
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