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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: 13-23338293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23338293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SACS",
"hgnc_id": 10519,
"hgvs_c": "c.5610G>A",
"hgvs_p": "p.Trp1870*",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001437336.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "W",
"aa_start": 1861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15635,
"cdna_start": 6172,
"cds_end": null,
"cds_length": 13740,
"cds_start": 5583,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014363.6",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Trp1861*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382292.9",
"protein_coding": true,
"protein_id": "NP_055178.3",
"strand": false,
"transcript": "NM_014363.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "W",
"aa_start": 1861,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15635,
"cdna_start": 6172,
"cds_end": null,
"cds_length": 13740,
"cds_start": 5583,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000382292.9",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Trp1861*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014363.6",
"protein_coding": true,
"protein_id": "ENSP00000371729.3",
"strand": false,
"transcript": "ENST00000382292.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 832,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": null,
"cds_end": null,
"cds_length": 2499,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000455470.6",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.2431+3152G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406565.2",
"strand": false,
"transcript": "ENST00000455470.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "W",
"aa_start": 1870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15662,
"cdna_start": 6199,
"cds_end": null,
"cds_length": 13767,
"cds_start": 5610,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001437336.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5610G>A",
"hgvs_p": "p.Trp1870*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424265.1",
"strand": false,
"transcript": "NM_001437336.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "W",
"aa_start": 1870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15712,
"cdna_start": 6249,
"cds_end": null,
"cds_length": 13767,
"cds_start": 5610,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000682944.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5610G>A",
"hgvs_p": "p.Trp1870*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507173.1",
"strand": false,
"transcript": "ENST00000682944.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4432,
"aa_ref": "W",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15095,
"cdna_start": 5632,
"cds_end": null,
"cds_length": 13299,
"cds_start": 5142,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001278055.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5142G>A",
"hgvs_p": "p.Trp1714*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264984.1",
"strand": false,
"transcript": "NM_001278055.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 3829,
"aa_ref": "W",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15134,
"cdna_start": 5667,
"cds_end": null,
"cds_length": 11490,
"cds_start": 3333,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000402364.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Trp1111*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385844.1",
"strand": false,
"transcript": "ENST00000402364.1",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2170,
"aa_ref": "W",
"aa_start": 1858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7009,
"cdna_start": 5703,
"cds_end": null,
"cds_length": 6513,
"cds_start": 5574,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000683270.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5574G>A",
"hgvs_p": "p.Trp1858*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507624.1",
"strand": false,
"transcript": "ENST00000683270.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4596,
"aa_ref": "W",
"aa_start": 1878,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15134,
"cdna_start": 5671,
"cds_end": null,
"cds_length": 13791,
"cds_start": 5634,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430254.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5634G>A",
"hgvs_p": "p.Trp1878*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286210.1",
"strand": false,
"transcript": "XM_047430254.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4588,
"aa_ref": "W",
"aa_start": 1870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15883,
"cdna_start": 6420,
"cds_end": null,
"cds_length": 13767,
"cds_start": 5610,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024449337.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5610G>A",
"hgvs_p": "p.Trp1870*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305105.1",
"strand": false,
"transcript": "XM_024449337.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4587,
"aa_ref": "W",
"aa_start": 1869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15107,
"cdna_start": 5644,
"cds_end": null,
"cds_length": 13764,
"cds_start": 5607,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430255.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5607G>A",
"hgvs_p": "p.Trp1869*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286211.1",
"strand": false,
"transcript": "XM_047430255.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4585,
"aa_ref": "W",
"aa_start": 1867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15210,
"cdna_start": 5747,
"cds_end": null,
"cds_length": 13758,
"cds_start": 5601,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535039.3",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5601G>A",
"hgvs_p": "p.Trp1867*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533341.1",
"strand": false,
"transcript": "XM_011535039.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4579,
"aa_ref": "W",
"aa_start": 1861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15856,
"cdna_start": 6393,
"cds_end": null,
"cds_length": 13740,
"cds_start": 5583,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430256.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5583G>A",
"hgvs_p": "p.Trp1861*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286212.1",
"strand": false,
"transcript": "XM_047430256.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4576,
"aa_ref": "W",
"aa_start": 1858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15183,
"cdna_start": 5720,
"cds_end": null,
"cds_length": 13731,
"cds_start": 5574,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017020539.2",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5574G>A",
"hgvs_p": "p.Trp1858*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876028.1",
"strand": false,
"transcript": "XM_017020539.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4539,
"aa_ref": "W",
"aa_start": 1821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15515,
"cdna_start": 6052,
"cds_end": null,
"cds_length": 13620,
"cds_start": 5463,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430257.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Trp1821*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286213.1",
"strand": false,
"transcript": "XM_047430257.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4539,
"aa_ref": "W",
"aa_start": 1821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15736,
"cdna_start": 6273,
"cds_end": null,
"cds_length": 13620,
"cds_start": 5463,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430258.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5463G>A",
"hgvs_p": "p.Trp1821*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286214.1",
"strand": false,
"transcript": "XM_047430258.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4538,
"aa_ref": "W",
"aa_start": 1820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14960,
"cdna_start": 5497,
"cds_end": null,
"cds_length": 13617,
"cds_start": 5460,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047430259.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5460G>A",
"hgvs_p": "p.Trp1820*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286215.1",
"strand": false,
"transcript": "XM_047430259.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4536,
"aa_ref": "W",
"aa_start": 1818,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15063,
"cdna_start": 5600,
"cds_end": null,
"cds_length": 13611,
"cds_start": 5454,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430260.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5454G>A",
"hgvs_p": "p.Trp1818*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286216.1",
"strand": false,
"transcript": "XM_047430260.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4530,
"aa_ref": "W",
"aa_start": 1812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15488,
"cdna_start": 6025,
"cds_end": null,
"cds_length": 13593,
"cds_start": 5436,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430261.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Trp1812*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286217.1",
"strand": false,
"transcript": "XM_047430261.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4530,
"aa_ref": "W",
"aa_start": 1812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15709,
"cdna_start": 6246,
"cds_end": null,
"cds_length": 13593,
"cds_start": 5436,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047430262.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5436G>A",
"hgvs_p": "p.Trp1812*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286218.1",
"strand": false,
"transcript": "XM_047430262.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 4527,
"aa_ref": "W",
"aa_start": 1809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15036,
"cdna_start": 5573,
"cds_end": null,
"cds_length": 13584,
"cds_start": 5427,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047430263.1",
"gene_hgnc_id": 10519,
"gene_symbol": "SACS",
"hgvs_c": "c.5427G>A",
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