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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: 20-33412697-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33412697&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SNTA1",
"hgnc_id": 11167,
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_003098.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124904889",
"hgnc_id": null,
"hgvs_c": "n.2739C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "XR_007067567.1",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288878",
"hgnc_id": null,
"hgvs_c": "n.224+2463C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000785672.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 417,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1157,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "20",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Congenital long QT syndrome,Long QT syndrome,Long QT syndrome 12,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34624552726745605,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1518,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003098.3",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217381.3",
"protein_coding": true,
"protein_id": "NP_003089.1",
"strand": false,
"transcript": "NM_003098.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1518,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000217381.3",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003098.3",
"protein_coding": true,
"protein_id": "ENSP00000217381.2",
"strand": false,
"transcript": "ENST00000217381.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 546,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1641,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953204.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Ala304Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623263.1",
"strand": false,
"transcript": "ENST00000953204.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 528,
"aa_ref": "A",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1587,
"cds_start": 856,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953205.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Ala286Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623264.1",
"strand": false,
"transcript": "ENST00000953205.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1548,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953203.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Ala273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623262.1",
"strand": false,
"transcript": "ENST00000953203.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 512,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1539,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880503.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550562.1",
"strand": false,
"transcript": "ENST00000880503.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1536,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953201.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623260.1",
"strand": false,
"transcript": "ENST00000953201.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 510,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1533,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953206.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623265.1",
"strand": false,
"transcript": "ENST00000953206.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1530,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953198.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623257.1",
"strand": false,
"transcript": "ENST00000953198.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1515,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424413.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411342.1",
"strand": false,
"transcript": "NM_001424413.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1515,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880497.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550556.1",
"strand": false,
"transcript": "ENST00000880497.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1497,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880499.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550558.1",
"strand": false,
"transcript": "ENST00000880499.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1491,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424414.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411343.1",
"strand": false,
"transcript": "NM_001424414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1470,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880502.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550561.1",
"strand": false,
"transcript": "ENST00000880502.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 476,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1431,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880500.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550559.1",
"strand": false,
"transcript": "ENST00000880500.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 475,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1428,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953199.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623258.1",
"strand": false,
"transcript": "ENST00000953199.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1419,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953202.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623261.1",
"strand": false,
"transcript": "ENST00000953202.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1413,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880498.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550557.1",
"strand": false,
"transcript": "ENST00000880498.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 924,
"cds_end": null,
"cds_length": 1410,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953197.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623256.1",
"strand": false,
"transcript": "ENST00000953197.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 469,
"aa_ref": "A",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1410,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953207.1",
"gene_hgnc_id": 11167,
"gene_symbol": "SNTA1",
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"intron_rank": null,
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