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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: 22-19962627-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19962627&ref=G&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": "COMT",
"hgnc_id": 2228,
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000754.4",
"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": 0.1393,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11911472678184509,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 318,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000754.4",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361682.11",
"protein_coding": true,
"protein_id": "NP_000745.1",
"strand": true,
"transcript": "NM_000754.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 318,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000361682.11",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000754.4",
"protein_coding": true,
"protein_id": "ENSP00000354511.6",
"strand": true,
"transcript": "ENST00000361682.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1339,
"cdna_start": 344,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000406520.7",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385150.3",
"strand": true,
"transcript": "ENST00000406520.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 221,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": null,
"cds_end": null,
"cds_length": 666,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000449653.5",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.-50G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416778.1",
"strand": true,
"transcript": "ENST00000449653.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 337,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1014,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964897.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634956.1",
"strand": true,
"transcript": "ENST00000964897.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 302,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 256,
"cds_end": null,
"cds_length": 909,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000678769.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503289.1",
"strand": true,
"transcript": "ENST00000678769.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 302,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1540,
"cdna_start": 527,
"cds_end": null,
"cds_length": 909,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852829.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522888.1",
"strand": true,
"transcript": "ENST00000852829.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 302,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": 294,
"cds_end": null,
"cds_length": 909,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964899.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634958.1",
"strand": true,
"transcript": "ENST00000964899.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 300,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": 225,
"cds_end": null,
"cds_length": 903,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964895.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634954.1",
"strand": true,
"transcript": "ENST00000964895.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 297,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 294,
"cds_end": null,
"cds_length": 894,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852828.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522887.1",
"strand": true,
"transcript": "ENST00000852828.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 297,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 294,
"cds_end": null,
"cds_length": 894,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852830.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522889.1",
"strand": true,
"transcript": "ENST00000852830.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 297,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 340,
"cds_end": null,
"cds_length": 894,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964894.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634953.1",
"strand": true,
"transcript": "ENST00000964894.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 297,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": 506,
"cds_end": null,
"cds_length": 894,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964896.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634955.1",
"strand": true,
"transcript": "ENST00000964896.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 297,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 292,
"cds_end": null,
"cds_length": 894,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964898.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634957.1",
"strand": true,
"transcript": "ENST00000964898.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 292,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 219,
"cds_end": null,
"cds_length": 879,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000428707.2",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387695.2",
"strand": true,
"transcript": "ENST00000428707.2",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 275,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1260,
"cdna_start": 249,
"cds_end": null,
"cds_length": 828,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964893.1",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634952.1",
"strand": true,
"transcript": "ENST00000964893.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 343,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135161.2",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128633.1",
"strand": true,
"transcript": "NM_001135161.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 329,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135162.2",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128634.1",
"strand": true,
"transcript": "NM_001135162.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 612,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362828.2",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349757.1",
"strand": true,
"transcript": "NM_001362828.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 611,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000403710.5",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385917.1",
"strand": true,
"transcript": "ENST00000403710.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 271,
"aa_ref": "C",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 480,
"cds_end": null,
"cds_length": 816,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000407537.5",
"gene_hgnc_id": 2228,
"gene_symbol": "COMT",
"hgvs_c": "c.101G>A",
"hgvs_p": "p.Cys34Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384654.2",
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