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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: 20-32434644-GGGT-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32434644&ref=GGGT&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting"
],
"effects": [
"disruptive_inframe_insertion"
],
"gene_symbol": "ASXL1",
"hgnc_id": 18318,
"hgvs_c": "c.1932_1934dupGGG",
"hgvs_p": "p.Gly645dup",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_015338.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGGGGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "G",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7052,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 4626,
"cds_start": 1935,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_015338.6",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1932_1934dupGGG",
"hgvs_p": "p.Gly645dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375687.10",
"protein_coding": true,
"protein_id": "NP_056153.2",
"strand": true,
"transcript": "NM_015338.6",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "G",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7052,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 4626,
"cds_start": 1935,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000375687.10",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1932_1934dupGGG",
"hgvs_p": "p.Gly645dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015338.6",
"protein_coding": true,
"protein_id": "ENSP00000364839.4",
"strand": true,
"transcript": "ENST00000375687.10",
"transcript_support_level": 5
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1536,
"aa_ref": "G",
"aa_start": 640,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6591,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 4611,
"cds_start": 1920,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000306058.9",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1917_1919dupGGG",
"hgvs_p": "p.Gly640dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305119.5",
"strand": true,
"transcript": "ENST00000306058.9",
"transcript_support_level": 1
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "G",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7114,
"cdna_start": 2442,
"cds_end": null,
"cds_length": 4623,
"cds_start": 1932,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000905973.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1929_1931dupGGG",
"hgvs_p": "p.Gly644dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576032.1",
"strand": true,
"transcript": "ENST00000905973.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6909,
"cdna_start": 2237,
"cds_end": null,
"cds_length": 4470,
"cds_start": 1779,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915088.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1776_1778dupGGG",
"hgvs_p": "p.Gly593dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585147.1",
"strand": true,
"transcript": "ENST00000915088.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "G",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 4443,
"cds_start": 1752,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001363734.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1749_1751dupGGG",
"hgvs_p": "p.Gly584dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350663.1",
"strand": true,
"transcript": "NM_001363734.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "G",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6666,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 4443,
"cds_start": 1752,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000646985.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1749_1751dupGGG",
"hgvs_p": "p.Gly584dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495053.1",
"strand": true,
"transcript": "ENST00000646985.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1628,
"aa_ref": "G",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6896,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 4887,
"cds_start": 2196,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011528648.4",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.2193_2195dupGGG",
"hgvs_p": "p.Gly732dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526950.1",
"strand": true,
"transcript": "XM_011528648.4",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1540,
"aa_ref": "G",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7049,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 4623,
"cds_start": 1932,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_006723727.4",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1929_1931dupGGG",
"hgvs_p": "p.Gly644dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723790.1",
"strand": true,
"transcript": "XM_006723727.4",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1534,
"aa_ref": "G",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6829,
"cdna_start": 2157,
"cds_end": null,
"cds_length": 4605,
"cds_start": 1914,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439939.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1911_1913dupGGG",
"hgvs_p": "p.Gly638dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295895.1",
"strand": true,
"transcript": "XM_047439939.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "G",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6820,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 4596,
"cds_start": 1905,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006723728.4",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1902_1904dupGGG",
"hgvs_p": "p.Gly635dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723791.1",
"strand": true,
"transcript": "XM_006723728.4",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "G",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6817,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 4593,
"cds_start": 1902,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047439940.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1899_1901dupGGG",
"hgvs_p": "p.Gly634dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295896.1",
"strand": true,
"transcript": "XM_047439940.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 4542,
"cds_start": 1851,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006723730.5",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1848_1850dupGGG",
"hgvs_p": "p.Gly617dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723793.1",
"strand": true,
"transcript": "XM_006723730.5",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7226,
"cdna_start": 2554,
"cds_end": null,
"cds_length": 4542,
"cds_start": 1851,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439941.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1848_1850dupGGG",
"hgvs_p": "p.Gly617dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295897.1",
"strand": true,
"transcript": "XM_047439941.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6917,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 4542,
"cds_start": 1851,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439942.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1848_1850dupGGG",
"hgvs_p": "p.Gly617dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295898.1",
"strand": true,
"transcript": "XM_047439942.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7142,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 4542,
"cds_start": 1851,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439943.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1848_1850dupGGG",
"hgvs_p": "p.Gly617dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295899.1",
"strand": true,
"transcript": "XM_047439943.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1513,
"aa_ref": "G",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6833,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 4542,
"cds_start": 1851,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047439944.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1848_1850dupGGG",
"hgvs_p": "p.Gly617dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295900.1",
"strand": true,
"transcript": "XM_047439944.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "G",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6896,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 4470,
"cds_start": 1779,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047439945.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1776_1778dupGGG",
"hgvs_p": "p.Gly593dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295901.1",
"strand": true,
"transcript": "XM_047439945.1",
"transcript_support_level": null
},
{
"aa_alt": "GG",
"aa_end": null,
"aa_length": 1313,
"aa_ref": "G",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7723,
"cdna_start": 3051,
"cds_end": null,
"cds_length": 3942,
"cds_start": 1251,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006723733.2",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1248_1250dupGGG",
"hgvs_p": "p.Gly417dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723796.1",
"strand": true,
"transcript": "XM_006723733.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651418.1",
"gene_hgnc_id": 18318,
"gene_symbol": "ASXL1",
"hgvs_c": "c.1869+63_1869+65dupGGG",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499150.1",
"strand": true,
"transcript": "ENST00000651418.1",
"transcript_support_level": null
},
{
"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": 8056,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
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}