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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: 16-15717194-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15717194&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"hgvs_c": "c.5471C>T",
"hgvs_p": "p.Ala1824Val",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001040114.2",
"verdict": "Benign"
},
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"hgvs_c": "c.948-6997G>A",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_017668.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 94,
"alphamissense_prediction": null,
"alphamissense_score": 0.1173,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " familial thoracic 4,Aortic aneurysm,Connective tissue disorder,Familial thoracic aortic aneurysm and aortic dissection,MYH11-related disorder,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22081714868545532,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 5555,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_002474.3",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300036.6",
"protein_coding": true,
"protein_id": "NP_002465.1",
"strand": false,
"transcript": "NM_002474.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 5555,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000300036.6",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002474.3",
"protein_coding": true,
"protein_id": "ENSP00000300036.5",
"strand": false,
"transcript": "ENST00000300036.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "A",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 5576,
"cds_end": null,
"cds_length": 5838,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001040113.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5471C>T",
"hgvs_p": "p.Ala1824Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000452625.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035202.1",
"strand": false,
"transcript": "NM_001040113.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "A",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 5576,
"cds_end": null,
"cds_length": 5838,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000452625.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5471C>T",
"hgvs_p": "p.Ala1824Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001040113.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407821.2",
"strand": false,
"transcript": "ENST00000452625.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "A",
"aa_start": 1824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6847,
"cdna_start": 5559,
"cds_end": null,
"cds_length": 5940,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000396324.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5471C>T",
"hgvs_p": "p.Ala1824Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379616.3",
"strand": false,
"transcript": "ENST00000396324.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "A",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 5521,
"cds_end": null,
"cds_length": 5817,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000576790.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458731.1",
"strand": false,
"transcript": "ENST00000576790.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017668.3",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.948-6997G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396354.6",
"protein_coding": true,
"protein_id": "NP_060138.1",
"strand": true,
"transcript": "NM_017668.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396354.6",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.948-6997G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017668.3",
"protein_coding": true,
"protein_id": "ENSP00000379642.1",
"strand": true,
"transcript": "ENST00000396354.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 335,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396355.5",
"gene_hgnc_id": 17619,
"gene_symbol": "NDE1",
"hgvs_c": "c.948-6997G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379643.1",
"strand": true,
"transcript": "ENST00000396355.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000571275.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "n.1738C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000571275.1",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "A",
"aa_start": 1833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 5605,
"cds_end": null,
"cds_length": 5967,
"cds_start": 5498,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000911137.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5498C>T",
"hgvs_p": "p.Ala1833Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581196.1",
"strand": false,
"transcript": "ENST00000911137.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1985,
"aa_ref": "A",
"aa_start": 1830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 5596,
"cds_end": null,
"cds_length": 5958,
"cds_start": 5489,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000911136.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5489C>T",
"hgvs_p": "p.Ala1830Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581195.1",
"strand": false,
"transcript": "ENST00000911136.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1981,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6078,
"cdna_start": 5581,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000963704.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633763.1",
"strand": false,
"transcript": "ENST00000963704.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1979,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6901,
"cdna_start": 5576,
"cds_end": null,
"cds_length": 5940,
"cds_start": 5471,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001040114.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5471C>T",
"hgvs_p": "p.Ala1824Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035203.1",
"strand": false,
"transcript": "NM_001040114.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "A",
"aa_start": 1822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6890,
"cdna_start": 5572,
"cds_end": null,
"cds_length": 5934,
"cds_start": 5465,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000911133.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5465C>T",
"hgvs_p": "p.Ala1822Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581192.1",
"strand": false,
"transcript": "ENST00000911133.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7006,
"cdna_start": 5684,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000713757.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519058.1",
"strand": false,
"transcript": "ENST00000713757.1",
"transcript_support_level": null
},
{
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"aa_length": 1972,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6335,
"cdna_start": 5801,
"cds_end": null,
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"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000911134.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581193.1",
"strand": false,
"transcript": "ENST00000911134.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1972,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 5759,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000911140.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581199.1",
"strand": false,
"transcript": "ENST00000911140.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6894,
"cdna_start": 5573,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000963701.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5450C>T",
"hgvs_p": "p.Ala1817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633760.1",
"strand": false,
"transcript": "ENST00000963701.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1963,
"aa_ref": "A",
"aa_start": 1808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": 5531,
"cds_end": null,
"cds_length": 5892,
"cds_start": 5423,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000963702.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.5423C>T",
"hgvs_p": "p.Ala1808Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633761.1",
"strand": false,
"transcript": "ENST00000963702.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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