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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: 18-55228282-GGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55228282&ref=GGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 55228282,
"ref": "GGA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000354452.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs",
"transcript": "NM_001083962.2",
"protein_id": "NP_001077431.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 671,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "ENST00000354452.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs",
"transcript": "ENST00000354452.8",
"protein_id": "ENSP00000346440.3",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 671,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 8041,
"mane_select": "NM_001083962.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2263_2264delTC",
"hgvs_p": "p.Ser755fs",
"transcript": "ENST00000398339.5",
"protein_id": "ENSP00000381382.1",
"transcript_support_level": 1,
"aa_start": 755,
"aa_end": null,
"aa_length": 773,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1945_1946delTC",
"hgvs_p": "p.Ser649fs",
"transcript": "ENST00000356073.8",
"protein_id": "ENSP00000348374.4",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 667,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 8317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1936_1937delTC",
"hgvs_p": "p.Ser646fs",
"transcript": "ENST00000566286.5",
"protein_id": "ENSP00000455418.2",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 664,
"cds_start": 1936,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1819_1820delTC",
"hgvs_p": "p.Ser607fs",
"transcript": "ENST00000543082.5",
"protein_id": "ENSP00000439656.1",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 625,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1765_1766delTC",
"hgvs_p": "p.Ser589fs",
"transcript": "ENST00000567880.5",
"protein_id": "ENSP00000454366.1",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 607,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1732_1733delTC",
"hgvs_p": "p.Ser578fs",
"transcript": "ENST00000564228.5",
"protein_id": "ENSP00000455261.1",
"transcript_support_level": 1,
"aa_start": 578,
"aa_end": null,
"aa_length": 596,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 1915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1477_1478delTC",
"hgvs_p": "p.Ser493fs",
"transcript": "ENST00000457482.7",
"protein_id": "ENSP00000409447.2",
"transcript_support_level": 1,
"aa_start": 493,
"aa_end": null,
"aa_length": 511,
"cds_start": 1477,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1465_1466delTC",
"hgvs_p": "p.Ser489fs",
"transcript": "ENST00000561831.7",
"protein_id": "ENSP00000457765.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 507,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1465_1466delTC",
"hgvs_p": "p.Ser489fs",
"transcript": "ENST00000570287.6",
"protein_id": "ENSP00000455763.1",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 507,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.5480_5481delTC",
"hgvs_p": null,
"transcript": "ENST00000562680.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2263_2264delTC",
"hgvs_p": "p.Ser755fs",
"transcript": "NM_001243226.3",
"protein_id": "NP_001230155.2",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 773,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1984_1985delTC",
"hgvs_p": "p.Ser662fs",
"transcript": "ENST00000638154.3",
"protein_id": "ENSP00000490625.2",
"transcript_support_level": 5,
"aa_start": 662,
"aa_end": null,
"aa_length": 680,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 7946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1975_1976delTC",
"hgvs_p": "p.Ser659fs",
"transcript": "NM_001243228.2",
"protein_id": "NP_001230157.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 677,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 8419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1975_1976delTC",
"hgvs_p": "p.Ser659fs",
"transcript": "ENST00000564403.6",
"protein_id": "ENSP00000457263.1",
"transcript_support_level": 5,
"aa_start": 659,
"aa_end": null,
"aa_length": 677,
"cds_start": 1975,
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"cdna_start": 2539,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs",
"transcript": "NM_001369567.1",
"protein_id": "NP_001356496.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 671,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 8401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs",
"transcript": "NM_001369568.1",
"protein_id": "NP_001356497.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 671,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 8034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs",
"transcript": "ENST00000629387.2",
"protein_id": "ENSP00000486670.1",
"transcript_support_level": 5,
"aa_start": 653,
"aa_end": null,
"aa_length": 671,
"cds_start": 1957,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1954_1955delTC",
"hgvs_p": "p.Ser652fs",
"transcript": "NM_001330604.3",
"protein_id": "NP_001317533.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 670,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1954_1955delTC",
"hgvs_p": "p.Ser652fs",
"transcript": "NM_001369569.1",
"protein_id": "NP_001356498.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 670,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 8031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1954_1955delTC",
"hgvs_p": "p.Ser652fs",
"transcript": "NM_001369570.1",
"protein_id": "NP_001356499.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 670,
"cds_start": 1954,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1945_1946delTC",
"hgvs_p": "p.Ser649fs",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000354452.8",
"gene_symbol": "TCF4",
"hgnc_id": 11634,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1957_1958delTC",
"hgvs_p": "p.Ser653fs"
}
],
"clinvar_disease": "Pitt-Hopkins syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Pitt-Hopkins syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}