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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: 18-55228946-TGCG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=55228946&ref=TGCG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 55228946,
"ref": "TGCG",
"alt": "T",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001243226.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "NM_001083962.2",
"protein_id": "NP_001077431.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083962.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "ENST00000354452.8",
"protein_id": "ENSP00000346440.3",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001083962.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354452.8"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2083_2085delCGC",
"hgvs_p": "p.Arg695del",
"transcript": "ENST00000398339.5",
"protein_id": "ENSP00000381382.1",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 773,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398339.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1765_1767delCGC",
"hgvs_p": "p.Arg589del",
"transcript": "ENST00000356073.8",
"protein_id": "ENSP00000348374.4",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 667,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356073.8"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1756_1758delCGC",
"hgvs_p": "p.Arg586del",
"transcript": "ENST00000566286.5",
"protein_id": "ENSP00000455418.2",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 664,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566286.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1639_1641delCGC",
"hgvs_p": "p.Arg547del",
"transcript": "ENST00000543082.5",
"protein_id": "ENSP00000439656.1",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 625,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543082.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1585_1587delCGC",
"hgvs_p": "p.Arg529del",
"transcript": "ENST00000567880.5",
"protein_id": "ENSP00000454366.1",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 607,
"cds_start": 1585,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567880.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1552_1554delCGC",
"hgvs_p": "p.Arg518del",
"transcript": "ENST00000564228.5",
"protein_id": "ENSP00000455261.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 596,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564228.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1297_1299delCGC",
"hgvs_p": "p.Arg433del",
"transcript": "ENST00000457482.7",
"protein_id": "ENSP00000409447.2",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 511,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457482.7"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1285_1287delCGC",
"hgvs_p": "p.Arg429del",
"transcript": "ENST00000561831.7",
"protein_id": "ENSP00000457765.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 507,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561831.7"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1285_1287delCGC",
"hgvs_p": "p.Arg429del",
"transcript": "ENST00000570287.6",
"protein_id": "ENSP00000455763.1",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 507,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570287.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "n.5300_5302delCGC",
"hgvs_p": null,
"transcript": "ENST00000562680.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562680.5"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.2083_2085delCGC",
"hgvs_p": "p.Arg695del",
"transcript": "NM_001243226.3",
"protein_id": "NP_001230155.2",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 773,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243226.3"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1855_1857delCGC",
"hgvs_p": "p.Arg619del",
"transcript": "ENST00000936496.1",
"protein_id": "ENSP00000606555.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 697,
"cds_start": 1855,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936496.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1804_1806delCGC",
"hgvs_p": "p.Arg602del",
"transcript": "ENST00000638154.3",
"protein_id": "ENSP00000490625.2",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 680,
"cds_start": 1804,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638154.3"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1795_1797delCGC",
"hgvs_p": "p.Arg599del",
"transcript": "NM_001243228.2",
"protein_id": "NP_001230157.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 677,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243228.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1795_1797delCGC",
"hgvs_p": "p.Arg599del",
"transcript": "ENST00000564403.6",
"protein_id": "ENSP00000457263.1",
"transcript_support_level": 5,
"aa_start": 599,
"aa_end": null,
"aa_length": 677,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564403.6"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "NM_001369567.1",
"protein_id": "NP_001356496.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369567.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "NM_001369568.1",
"protein_id": "NP_001356497.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369568.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "ENST00000629387.2",
"protein_id": "ENSP00000486670.1",
"transcript_support_level": 5,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629387.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
"hgvs_p": "p.Arg593del",
"transcript": "ENST00000856120.1",
"protein_id": "ENSP00000526179.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 671,
"cds_start": 1777,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856120.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF4",
"gene_hgnc_id": 11634,
"hgvs_c": "c.1777_1779delCGC",
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{
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],
"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Pitt-Hopkins syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}