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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: 11-76796074-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76796074&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSKU",
"hgnc_id": 28850,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Thr167Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001318477.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2425,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21446868777275085,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_015516.4",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333090.5",
"protein_coding": true,
"protein_id": "NP_056331.2",
"strand": true,
"transcript": "NM_015516.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000333090.5",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015516.4",
"protein_coding": true,
"protein_id": "ENSP00000332668.4",
"strand": true,
"transcript": "ENST00000333090.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 367,
"aa_ref": "T",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1104,
"cds_start": 500,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318477.2",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Thr167Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305406.1",
"strand": true,
"transcript": "NM_001318477.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2690,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001258210.2",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245139.1",
"strand": true,
"transcript": "NM_001258210.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318478.2",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305407.1",
"strand": true,
"transcript": "NM_001318478.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 495,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318479.2",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305408.1",
"strand": true,
"transcript": "NM_001318479.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000527881.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434847.1",
"strand": true,
"transcript": "ENST00000527881.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000612930.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482145.1",
"strand": true,
"transcript": "ENST00000612930.1",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2672,
"cdna_start": 602,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000870292.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540351.1",
"strand": true,
"transcript": "ENST00000870292.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870293.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540352.1",
"strand": true,
"transcript": "ENST00000870293.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 584,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870294.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540353.1",
"strand": true,
"transcript": "ENST00000870294.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870295.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540354.1",
"strand": true,
"transcript": "ENST00000870295.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3029,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870296.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540355.1",
"strand": true,
"transcript": "ENST00000870296.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2706,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870297.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540356.1",
"strand": true,
"transcript": "ENST00000870297.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 559,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870298.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540357.1",
"strand": true,
"transcript": "ENST00000870298.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870299.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540358.1",
"strand": true,
"transcript": "ENST00000870299.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000870300.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540359.1",
"strand": true,
"transcript": "ENST00000870300.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2721,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000956905.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626964.1",
"strand": true,
"transcript": "ENST00000956905.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956906.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626965.1",
"strand": true,
"transcript": "ENST00000956906.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 353,
"aa_ref": "T",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 1062,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047426726.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.458C>A",
"hgvs_p": "p.Thr153Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282682.1",
"strand": true,
"transcript": "XM_047426726.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 149,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 643,
"cdna_start": null,
"cds_end": null,
"cds_length": 452,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533752.1",
"gene_hgnc_id": 28850,
"gene_symbol": "TSKU",
"hgvs_c": "c.*6C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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