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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: 5-103152867-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=103152867&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 103152867,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001281471.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001276277.3",
"protein_id": "NP_001263206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358359.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276277.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000358359.8",
"protein_id": "ENSP00000351126.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358359.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000414217.5",
"protein_id": "ENSP00000416016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414217.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001281471.3",
"protein_id": "NP_001268400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": null,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000613674.4",
"protein_id": "ENSP00000482907.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": null,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613674.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000627916.2",
"protein_id": "ENSP00000486357.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": null,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627916.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001345873.2",
"protein_id": "NP_001332802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001345873.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000960519.1",
"protein_id": "ENSP00000630578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960519.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000927930.1",
"protein_id": "ENSP00000597989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1237,
"cds_start": null,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927930.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_015216.5",
"protein_id": "NP_056031.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015216.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000321521.13",
"protein_id": "ENSP00000313070.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": null,
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"cds_length": 3669,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000321521.13"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001345872.2",
"protein_id": "NP_001332801.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001345872.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001345871.2",
"protein_id": "NP_001332800.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001345871.2"
},
{
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],
"exon_rank": null,
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"gene_symbol": "PPIP5K2",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001345876.2",
"protein_id": "NP_001332805.1",
"transcript_support_level": null,
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"feature": "NM_001345876.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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"gene_symbol": "PPIP5K2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 10,
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"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "NM_001345878.2",
"protein_id": "NP_001332807.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001345878.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000881491.1",
"protein_id": "ENSP00000551550.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.1130+118T>C",
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},
{
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],
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"exon_count": 29,
"intron_rank": 10,
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"gene_symbol": "PPIP5K2",
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"hgvs_c": "c.1130+118T>C",
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"transcript": "NM_001345874.2",
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"feature": "NM_001345874.2"
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000881489.1",
"protein_id": "ENSP00000551548.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881489.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPIP5K2",
"gene_hgnc_id": 29035,
"hgvs_c": "c.1130+118T>C",
"hgvs_p": null,
"transcript": "ENST00000927931.1",
"protein_id": "ENSP00000597990.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1164,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000927931.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}