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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: 17-41813045-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41813045&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 41813045,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "NM_021939.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "NM_021939.4",
"protein_id": "NP_068758.3",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 582,
"cds_start": 15,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321562.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021939.4"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000321562.9",
"protein_id": "ENSP00000317232.4",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 582,
"cds_start": 15,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021939.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321562.9"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914601.1",
"protein_id": "ENSP00000584660.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 689,
"cds_start": 15,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914601.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864398.1",
"protein_id": "ENSP00000534457.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 662,
"cds_start": 15,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864398.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864399.1",
"protein_id": "ENSP00000534458.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 647,
"cds_start": 15,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864399.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864401.1",
"protein_id": "ENSP00000534460.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 628,
"cds_start": 15,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864401.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864400.1",
"protein_id": "ENSP00000534459.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 624,
"cds_start": 15,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864400.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914596.1",
"protein_id": "ENSP00000584655.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 620,
"cds_start": 15,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914596.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864393.1",
"protein_id": "ENSP00000534452.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 601,
"cds_start": 15,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864393.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864392.1",
"protein_id": "ENSP00000534451.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 580,
"cds_start": 15,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864392.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864397.1",
"protein_id": "ENSP00000534456.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 580,
"cds_start": 15,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864397.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000864394.1",
"protein_id": "ENSP00000534453.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 562,
"cds_start": 15,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864394.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914595.1",
"protein_id": "ENSP00000584654.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 508,
"cds_start": 15,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914595.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914605.1",
"protein_id": "ENSP00000584664.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 497,
"cds_start": 15,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914605.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914594.1",
"protein_id": "ENSP00000584653.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 495,
"cds_start": 15,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914594.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914603.1",
"protein_id": "ENSP00000584662.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 489,
"cds_start": 15,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914603.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914597.1",
"protein_id": "ENSP00000584656.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 488,
"cds_start": 15,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914597.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000706683.1",
"protein_id": "ENSP00000516497.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 470,
"cds_start": 15,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706683.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914592.1",
"protein_id": "ENSP00000584651.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
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"cds_start": 15,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914592.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914599.1",
"protein_id": "ENSP00000584658.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 467,
"cds_start": 15,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914599.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914604.1",
"protein_id": "ENSP00000584663.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 449,
"cds_start": 15,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914604.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP10",
"gene_hgnc_id": 18169,
"hgvs_c": "c.14dupG",
"hgvs_p": "p.Ser8fs",
"transcript": "ENST00000914591.1",
"protein_id": "ENSP00000584650.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 396,
"cds_start": 15,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914591.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}