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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: 12-110645031-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110645031&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": "TCTN1",
"hgnc_id": 26113,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001082538.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "HVCN1",
"hgnc_id": 28240,
"hgvs_c": "c.756+5137C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000548312.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0761,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11269432306289673,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 592,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001082538.3",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397659.9",
"protein_coding": true,
"protein_id": "NP_001076007.1",
"strand": true,
"transcript": "NM_001082538.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 592,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397659.9",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001082538.3",
"protein_coding": true,
"protein_id": "ENSP00000380779.4",
"strand": true,
"transcript": "ENST00000397659.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000551590.5",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448735.1",
"strand": true,
"transcript": "ENST00000551590.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 573,
"aa_ref": "G",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397655.7",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Gly452Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380775.3",
"strand": true,
"transcript": "ENST00000397655.7",
"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": 2098,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000397656.8",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1029G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380776.4",
"strand": true,
"transcript": "ENST00000397656.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000464809.5",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435027.1",
"strand": true,
"transcript": "ENST00000464809.5",
"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": 1891,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000480648.5",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*672G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437196.1",
"strand": true,
"transcript": "ENST00000480648.5",
"transcript_support_level": 5
},
{
"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": 1988,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000495659.6",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1154G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436673.2",
"strand": true,
"transcript": "ENST00000495659.6",
"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": 2098,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000397656.8",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1029G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000380776.4",
"strand": true,
"transcript": "ENST00000397656.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000464809.5",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1222G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435027.1",
"strand": true,
"transcript": "ENST00000464809.5",
"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": 1891,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000480648.5",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*672G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437196.1",
"strand": true,
"transcript": "ENST00000480648.5",
"transcript_support_level": 5
},
{
"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": 1988,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000495659.6",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "n.*1154G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436673.2",
"strand": true,
"transcript": "ENST00000495659.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 636,
"aa_ref": "G",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 1598,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889010.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Gly515Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559069.1",
"strand": true,
"transcript": "ENST00000889010.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 610,
"aa_ref": "G",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889013.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Gly484Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559072.1",
"strand": true,
"transcript": "ENST00000889013.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "G",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000889001.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Gly484Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559060.1",
"strand": true,
"transcript": "ENST00000889001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949054.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1426G>A",
"hgvs_p": "p.Gly476Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619113.1",
"strand": true,
"transcript": "ENST00000949054.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 587,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001082537.3",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001076006.1",
"strand": true,
"transcript": "NM_001082537.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 578,
"aa_ref": "G",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889012.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Gly452Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559071.1",
"strand": true,
"transcript": "ENST00000889012.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889006.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Gly455Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559065.1",
"strand": true,
"transcript": "ENST00000889006.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 575,
"aa_ref": "G",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000889002.1",
"gene_hgnc_id": 26113,
"gene_symbol": "TCTN1",
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Gly466Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559061.1",
"strand": true,
"transcript": "ENST00000889002.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 573,
"aa_ref": "G",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1354,
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