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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: 18-55234376-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55234376&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"hgvs_c": "c.1792+172T>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001243226.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 89493,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "18",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001083962.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1486+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"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": null,
"aa_end": null,
"aa_length": 671,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8041,
"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354452.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1486+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"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": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 2322,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398339.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1792+172T>C",
"hgvs_p": null,
"intron_rank": 17,
"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": null,
"aa_end": null,
"aa_length": 667,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8317,
"cdna_start": null,
"cds_end": null,
"cds_length": 2004,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356073.8",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1486+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"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": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000566286.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1477+172T>C",
"hgvs_p": null,
"intron_rank": 15,
"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": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543082.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1360+172T>C",
"hgvs_p": null,
"intron_rank": 14,
"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": null,
"aa_end": null,
"aa_length": 607,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": null,
"cds_end": null,
"cds_length": 1824,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567880.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1306+172T>C",
"hgvs_p": null,
"intron_rank": 13,
"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": null,
"aa_end": null,
"aa_length": 596,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": null,
"cds_end": null,
"cds_length": 1791,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564228.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1273+172T>C",
"hgvs_p": null,
"intron_rank": 12,
"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": null,
"aa_end": null,
"aa_length": 511,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457482.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1006+172T>C",
"hgvs_p": null,
"intron_rank": 9,
"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": null,
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"aa_length": 507,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1823,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561831.7",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1006+172T>C",
"hgvs_p": null,
"intron_rank": 9,
"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
},
{
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"biotype": "protein_coding",
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"cdna_length": 3163,
"cdna_start": null,
"cds_end": null,
"cds_length": 1524,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000570287.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1006+172T>C",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455763.1",
"strand": false,
"transcript": "ENST00000570287.6",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5733,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000562680.5",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "n.1577+172T>C",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000562680.5",
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},
{
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],
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"feature": "NM_001243226.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1792+172T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001230155.2",
"strand": false,
"transcript": "NM_001243226.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": null,
"cds_end": null,
"cds_length": 2094,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000936496.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1564+172T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606555.1",
"strand": false,
"transcript": "ENST00000936496.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000638154.3",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1513+172T>C",
"hgvs_p": null,
"intron_rank": 15,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000490625.2",
"strand": false,
"transcript": "ENST00000638154.3",
"transcript_support_level": 5
},
{
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"canonical": false,
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "NM_001243228.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1504+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001230157.1",
"strand": false,
"transcript": "NM_001243228.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2034,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000564403.6",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1504+172T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000457263.1",
"strand": false,
"transcript": "ENST00000564403.6",
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},
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"consequences": [
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],
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"feature": "NM_001369567.1",
"gene_hgnc_id": 11634,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001369567.1",
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},
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001369568.1",
"gene_hgnc_id": 11634,
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"protein_coding": true,
"protein_id": "NP_001356497.1",
"strand": false,
"transcript": "NM_001369568.1",
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},
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"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000629387.2",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1486+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"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
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2016,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856120.1",
"gene_hgnc_id": 11634,
"gene_symbol": "TCF4",
"hgvs_c": "c.1486+172T>C",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526179.1",
"strand": false,
"transcript": "ENST00000856120.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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