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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: 19-43913947-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=43913947&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 43913947,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003425.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "NM_003425.4",
"protein_id": "NP_003416.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269973.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003425.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000269973.10",
"protein_id": "ENSP00000269973.4",
"transcript_support_level": 2,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003425.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269973.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000589703.5",
"protein_id": "ENSP00000468579.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589703.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000615985.4",
"protein_id": "ENSP00000481895.1",
"transcript_support_level": 5,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615985.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864604.1",
"protein_id": "ENSP00000534663.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864604.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864605.1",
"protein_id": "ENSP00000534664.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864605.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864606.1",
"protein_id": "ENSP00000534665.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864606.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864607.1",
"protein_id": "ENSP00000534666.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864607.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864608.1",
"protein_id": "ENSP00000534667.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864608.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864609.1",
"protein_id": "ENSP00000534668.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864609.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864610.1",
"protein_id": "ENSP00000534669.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864610.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864611.1",
"protein_id": "ENSP00000534670.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864611.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864612.1",
"protein_id": "ENSP00000534671.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864612.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864613.1",
"protein_id": "ENSP00000534672.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864613.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864614.1",
"protein_id": "ENSP00000534673.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864614.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864615.1",
"protein_id": "ENSP00000534674.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864615.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864616.1",
"protein_id": "ENSP00000534675.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864616.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864617.1",
"protein_id": "ENSP00000534676.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864617.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864618.1",
"protein_id": "ENSP00000534677.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864618.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864619.1",
"protein_id": "ENSP00000534678.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864619.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864620.1",
"protein_id": "ENSP00000534679.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864620.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF45",
"gene_hgnc_id": 13111,
"hgvs_c": "c.1489G>A",
"hgvs_p": "p.Glu497Lys",
"transcript": "ENST00000864621.1",
"protein_id": "ENSP00000534680.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 682,
"cds_start": 1489,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}