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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: 11-62691403-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62691403&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BSCL2",
"hgnc_id": 15832,
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001386027.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "HNRNPUL2-BSCL2",
"hgnc_id": 49189,
"hgvs_c": "n.*933C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000403734.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9896,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease type 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9385814070701599,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001122955.4",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360796.10",
"protein_coding": true,
"protein_id": "NP_001116427.1",
"strand": false,
"transcript": "NM_001122955.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000360796.10",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122955.4",
"protein_coding": true,
"protein_id": "ENSP00000354032.5",
"strand": false,
"transcript": "ENST00000360796.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1395,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000405837.5",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385332.1",
"strand": false,
"transcript": "ENST00000405837.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "F",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1197,
"cds_start": 690,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000407022.7",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.690C>G",
"hgvs_p": "p.Phe230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384080.3",
"strand": false,
"transcript": "ENST00000407022.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000403734.2",
"gene_hgnc_id": 49189,
"gene_symbol": "HNRNPUL2-BSCL2",
"hgvs_c": "n.*933C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456010.1",
"strand": false,
"transcript": "ENST00000403734.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000403734.2",
"gene_hgnc_id": 49189,
"gene_symbol": "HNRNPUL2-BSCL2",
"hgvs_c": "n.*933C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456010.1",
"strand": false,
"transcript": "ENST00000403734.2",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 467,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1404,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912246.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582305.1",
"strand": false,
"transcript": "ENST00000912246.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 465,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1398,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683296.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507725.1",
"strand": false,
"transcript": "ENST00000683296.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 465,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1398,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854116.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524175.1",
"strand": false,
"transcript": "ENST00000854116.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 465,
"aa_ref": "F",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1398,
"cds_start": 891,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854117.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Phe297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524176.1",
"strand": false,
"transcript": "ENST00000854117.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 465,
"aa_ref": "F",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1398,
"cds_start": 891,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854120.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Phe297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524179.1",
"strand": false,
"transcript": "ENST00000854120.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1395,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001386027.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372956.1",
"strand": false,
"transcript": "NM_001386027.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1395,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854118.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524177.1",
"strand": false,
"transcript": "ENST00000854118.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001386028.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372957.1",
"strand": false,
"transcript": "NM_001386028.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1284,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000524862.6",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433888.2",
"strand": false,
"transcript": "ENST00000524862.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679883.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505838.1",
"strand": false,
"transcript": "ENST00000679883.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951455.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621514.1",
"strand": false,
"transcript": "ENST00000951455.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 462,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1648,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1389,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951457.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621516.1",
"strand": false,
"transcript": "ENST00000951457.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1383,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854115.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524174.1",
"strand": false,
"transcript": "ENST00000854115.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 460,
"aa_ref": "F",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1383,
"cds_start": 882,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000912245.1",
"gene_hgnc_id": 15832,
"gene_symbol": "BSCL2",
"hgvs_c": "c.882C>G",
"hgvs_p": "p.Phe294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582304.1",
"strand": false,
"transcript": "ENST00000912245.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 448,
"aa_ref": "F",
"aa_start": 294,
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