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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: 8-18020240-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18020240&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18020240,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001352632.2",
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5842-5121C>A",
"hgvs_p": null,
"transcript": "NM_006197.4",
"protein_id": "NP_006188.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2024,
"cds_start": null,
"cds_end": null,
"cds_length": 6075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325083.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006197.4"
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5842-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000325083.13",
"protein_id": "ENSP00000327077.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2024,
"cds_start": null,
"cds_end": null,
"cds_length": 6075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006197.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325083.13"
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5818-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000519253.5",
"protein_id": "ENSP00000431099.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2016,
"cds_start": null,
"cds_end": null,
"cds_length": 6051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519253.5"
},
{
"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": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5350-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000524226.5",
"protein_id": "ENSP00000430521.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1860,
"cds_start": null,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524226.5"
},
{
"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": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.6124-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937111.1",
"protein_id": "ENSP00000607170.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2118,
"cds_start": null,
"cds_end": null,
"cds_length": 6357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937111.1"
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5983-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937123.1",
"protein_id": "ENSP00000607182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2071,
"cds_start": null,
"cds_end": null,
"cds_length": 6216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937123.1"
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5971-5121C>A",
"hgvs_p": null,
"transcript": "NM_001352632.2",
"protein_id": "NP_001339561.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2067,
"cds_start": null,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352632.2"
},
{
"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": 42,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5959-5121C>A",
"hgvs_p": null,
"transcript": "NM_001352650.2",
"protein_id": "NP_001339579.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352650.2"
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5959-5121C>A",
"hgvs_p": null,
"transcript": "NM_001352651.2",
"protein_id": "NP_001339580.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352651.2"
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5959-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937110.1",
"protein_id": "ENSP00000607169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
"cds_end": null,
"cds_length": 6192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937110.1"
},
{
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5959-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937130.1",
"protein_id": "ENSP00000607189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
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"cds_length": 6192,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937130.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5959-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000969409.1",
"protein_id": "ENSP00000639468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2063,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969409.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5956-5121C>A",
"hgvs_p": null,
"transcript": "NM_001352633.2",
"protein_id": "NP_001339562.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2062,
"cds_start": null,
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"cds_length": 6189,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352633.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5935-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937124.1",
"protein_id": "ENSP00000607183.1",
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"biotype": "protein_coding",
"feature": "ENST00000937124.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5932-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937113.1",
"protein_id": "ENSP00000607172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2054,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937113.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5911-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937131.1",
"protein_id": "ENSP00000607190.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937131.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5902-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000937128.1",
"protein_id": "ENSP00000607187.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937128.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5902-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000969400.1",
"protein_id": "ENSP00000639459.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000969400.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5899-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000522275.6",
"protein_id": "ENSP00000429054.2",
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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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5899-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000969401.1",
"protein_id": "ENSP00000639460.1",
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"biotype": "protein_coding",
"feature": "ENST00000969401.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5875-5121C>A",
"hgvs_p": null,
"transcript": "ENST00000969402.1",
"protein_id": "ENSP00000639461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969402.1"
},
{
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCM1",
"gene_hgnc_id": 8727,
"hgvs_c": "c.5854-5121C>A",
"hgvs_p": null,
"transcript": "NM_001352634.2",
"protein_id": "NP_001339563.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2028,
"cds_start": null,
"cds_end": null,
"cds_length": 6087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352634.2"
},
{
"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": 39,
"intron_rank": 36,
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