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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: 1-2174439-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2174439&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2174439,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000378567.8",
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1406-315G>A",
"hgvs_p": null,
"transcript": "NM_002744.6",
"protein_id": "NP_002735.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "ENST00000378567.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1406-315G>A",
"hgvs_p": null,
"transcript": "ENST00000378567.8",
"protein_id": "ENSP00000367830.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": "NM_002744.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.857-315G>A",
"hgvs_p": null,
"transcript": "ENST00000400921.6",
"protein_id": "ENSP00000383712.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1094-315G>A",
"hgvs_p": null,
"transcript": "NM_001242874.3",
"protein_id": "NP_001229803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1094-315G>A",
"hgvs_p": null,
"transcript": "ENST00000461106.6",
"protein_id": "ENSP00000426412.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.881-315G>A",
"hgvs_p": null,
"transcript": "NM_001350803.2",
"protein_id": "NP_001337732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.881-315G>A",
"hgvs_p": null,
"transcript": "NM_001350804.2",
"protein_id": "NP_001337733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": -4,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.857-315G>A",
"hgvs_p": null,
"transcript": "NM_001033581.3",
"protein_id": "NP_001028753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.857-315G>A",
"hgvs_p": null,
"transcript": "NM_001033582.3",
"protein_id": "NP_001028754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.695-315G>A",
"hgvs_p": null,
"transcript": "NM_001350805.2",
"protein_id": "NP_001337734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.695-315G>A",
"hgvs_p": null,
"transcript": "NM_001350806.2",
"protein_id": "NP_001337735.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 9,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "n.845-315G>A",
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"transcript": "ENST00000478770.6",
"protein_id": "ENSP00000424398.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 13,
"intron_rank": 9,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "n.988-315G>A",
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"transcript": "ENST00000479263.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "PRKCZ",
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"transcript": "ENST00000505322.5",
"protein_id": null,
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},
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"strand": true,
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1430-315G>A",
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"transcript": "XM_017001789.2",
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},
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],
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"gene_symbol": "PRKCZ",
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},
{
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],
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"intron_rank": 14,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.1406-315G>A",
"hgvs_p": null,
"transcript": "XM_011541773.2",
"protein_id": "XP_011540075.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "PRKCZ",
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"hgvs_c": "c.1391-315G>A",
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"transcript": "XM_047425255.1",
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},
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],
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"gene_symbol": "PRKCZ",
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},
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],
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"gene_symbol": "PRKCZ",
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},
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],
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"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1160-315G>A",
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"transcript": "XM_047425283.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKCZ",
"gene_hgnc_id": 9412,
"hgvs_c": "c.1103-315G>A",
"hgvs_p": null,
"transcript": "XM_047425273.1",
"protein_id": "XP_047281229.1",
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},
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