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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: 18-55254564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55254564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Glu",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001243226.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.7634,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.809079647064209,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001083962.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354452.8",
"protein_coding": true,
"protein_id": "NP_001077431.1",
"strand": false,
"transcript": "NM_001083962.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000354452.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001083962.2",
"protein_coding": true,
"protein_id": "ENSP00000346440.3",
"strand": false,
"transcript": "ENST00000354452.8",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 773,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000398339.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381382.1",
"strand": false,
"transcript": "ENST00000398339.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 667,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8317,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000356073.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348374.4",
"strand": false,
"transcript": "ENST00000356073.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 664,
"aa_ref": "G",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000566286.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Gly425Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455418.2",
"strand": false,
"transcript": "ENST00000566286.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 625,
"aa_ref": "G",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1157,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000543082.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Gly386Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439656.1",
"strand": false,
"transcript": "ENST00000543082.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 607,
"aa_ref": "G",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1103,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000567880.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Gly368Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454366.1",
"strand": false,
"transcript": "ENST00000567880.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 596,
"aa_ref": "G",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000564228.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1070G>A",
"hgvs_p": "p.Gly357Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455261.1",
"strand": false,
"transcript": "ENST00000564228.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1536,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000457482.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Gly268Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409447.2",
"strand": false,
"transcript": "ENST00000457482.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 507,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1524,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000561831.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Gly268Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457765.1",
"strand": false,
"transcript": "ENST00000561831.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 507,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 1524,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000570287.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Gly268Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455763.1",
"strand": false,
"transcript": "ENST00000570287.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5733,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000562680.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.1374G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000562680.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 773,
"aa_ref": "G",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8232,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001243226.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Gly530Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230155.2",
"strand": false,
"transcript": "NM_001243226.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 697,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936496.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606555.1",
"strand": false,
"transcript": "ENST00000936496.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 680,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7946,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000638154.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Gly437Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490625.2",
"strand": false,
"transcript": "ENST00000638154.3",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 677,
"aa_ref": "G",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8419,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001243228.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Gly434Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230157.1",
"strand": false,
"transcript": "NM_001243228.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 677,
"aa_ref": "G",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000564403.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Gly434Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457263.1",
"strand": false,
"transcript": "ENST00000564403.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8401,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001369567.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356496.1",
"strand": false,
"transcript": "NM_001369567.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8034,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001369568.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356497.1",
"strand": false,
"transcript": "NM_001369568.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000629387.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486670.1",
"strand": false,
"transcript": "ENST00000629387.2",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 671,
"aa_ref": "G",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856120.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Gly428Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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