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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: 19-11576311-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11576311&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ACP5",
"hgnc_id": 124,
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001611.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF627",
"hgnc_id": 30570,
"hgvs_c": "c.-94+958G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000585493.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124904638",
"hgnc_id": null,
"hgvs_c": "n.105+958G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 7,
"score": 7,
"transcript": "XR_007067140.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Spondyloenchondrodysplasia with immune dysregulation",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.03999999910593033,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 720,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001611.5",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000648477.1",
"protein_coding": true,
"protein_id": "NP_001602.1",
"strand": false,
"transcript": "NM_001611.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 720,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648477.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001611.5",
"protein_coding": true,
"protein_id": "ENSP00000496973.1",
"strand": false,
"transcript": "ENST00000648477.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000218758.10",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000218758.4",
"strand": false,
"transcript": "ENST00000218758.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 333,
"aa_ref": "Q",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1437,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1002,
"cds_start": 691,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889667.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.691C>T",
"hgvs_p": "p.Gln231*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559726.1",
"strand": false,
"transcript": "ENST00000889667.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": 910,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001111034.3",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001104504.1",
"strand": false,
"transcript": "NM_001111034.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 959,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001111035.3",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001104505.1",
"strand": false,
"transcript": "NM_001111035.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 886,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001111036.3",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001104506.1",
"strand": false,
"transcript": "NM_001111036.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 988,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322023.2",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308952.1",
"strand": false,
"transcript": "NM_001322023.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001439233.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426162.1",
"strand": false,
"transcript": "NM_001439233.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001439234.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426163.1",
"strand": false,
"transcript": "NM_001439234.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439235.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426164.1",
"strand": false,
"transcript": "NM_001439235.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439236.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426165.1",
"strand": false,
"transcript": "NM_001439236.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 941,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000412435.7",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392374.1",
"strand": false,
"transcript": "ENST00000412435.7",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000589792.6",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468685.2",
"strand": false,
"transcript": "ENST00000589792.6",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 877,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000590832.2",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465127.2",
"strand": false,
"transcript": "ENST00000590832.2",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000591319.2",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464831.2",
"strand": false,
"transcript": "ENST00000591319.2",
"transcript_support_level": 3
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592659.2",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465498.2",
"strand": false,
"transcript": "ENST00000592659.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592828.7",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468767.3",
"strand": false,
"transcript": "ENST00000592828.7",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000649386.2",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497140.2",
"strand": false,
"transcript": "ENST00000649386.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Q",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 956,
"cds_end": null,
"cds_length": 978,
"cds_start": 667,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000695791.1",
"gene_hgnc_id": 124,
"gene_symbol": "ACP5",
"hgvs_c": "c.667C>T",
"hgvs_p": "p.Gln223*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512173.1",
"strand": false,
"transcript": "ENST00000695791.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 325,
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}