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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: 4-6301030-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6301030&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_006005.3",
"verdict": "Benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286176",
"hgnc_id": 58722,
"hgvs_c": "n.1337+2885A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000661896.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 421,
"alphamissense_prediction": null,
"alphamissense_score": 0.3946,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "4",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 6,WFS1-Related Spectrum Disorders,Wolfram syndrome 1,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.039896994829177856,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006005.3",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226760.5",
"protein_coding": true,
"protein_id": "NP_005996.2",
"strand": true,
"transcript": "NM_006005.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000226760.5",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006005.3",
"protein_coding": true,
"protein_id": "ENSP00000226760.1",
"strand": true,
"transcript": "ENST00000226760.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000503569.5",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423337.1",
"strand": true,
"transcript": "ENST00000503569.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 921,
"aa_ref": "V",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852027.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Val443Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522086.1",
"strand": true,
"transcript": "ENST00000852027.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 902,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673991.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Val424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501033.1",
"strand": true,
"transcript": "ENST00000673991.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 902,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3662,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682275.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Val424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507852.1",
"strand": true,
"transcript": "ENST00000682275.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 902,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852029.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Val424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522088.1",
"strand": true,
"transcript": "ENST00000852029.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 902,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2709,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956586.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1271T>C",
"hgvs_p": "p.Val424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626645.1",
"strand": true,
"transcript": "ENST00000956586.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145853.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139325.1",
"strand": true,
"transcript": "NM_001145853.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684087.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506978.1",
"strand": true,
"transcript": "ENST00000684087.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852028.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522087.1",
"strand": true,
"transcript": "ENST00000852028.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938521.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608580.1",
"strand": true,
"transcript": "ENST00000938521.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956579.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626638.1",
"strand": true,
"transcript": "ENST00000956579.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956583.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626642.1",
"strand": true,
"transcript": "ENST00000956583.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956584.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626643.1",
"strand": true,
"transcript": "ENST00000956584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 890,
"aa_ref": "V",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956585.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1235T>C",
"hgvs_p": "p.Val412Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626644.1",
"strand": true,
"transcript": "ENST00000956585.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 887,
"aa_ref": "V",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 2664,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938520.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1226T>C",
"hgvs_p": "p.Val409Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608579.1",
"strand": true,
"transcript": "ENST00000938520.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 875,
"aa_ref": "V",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956581.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1190T>C",
"hgvs_p": "p.Val397Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626640.1",
"strand": true,
"transcript": "ENST00000956581.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 863,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3154,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852030.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Val385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522089.1",
"strand": true,
"transcript": "ENST00000852030.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 863,
"aa_ref": "V",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956580.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1154T>C",
"hgvs_p": "p.Val385Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626639.1",
"strand": true,
"transcript": "ENST00000956580.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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}