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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: 10-16464502-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=16464502&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 16464502,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_030664.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "NM_001261836.2",
"protein_id": "NP_001248765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000535784.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261836.2"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000535784.7",
"protein_id": "ENSP00000439485.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001261836.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535784.7"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000378000.5",
"protein_id": "ENSP00000367239.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378000.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "NM_001001484.3",
"protein_id": "NP_001001484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001484.3"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-127-2630T>A",
"hgvs_p": null,
"transcript": "NM_030664.5",
"protein_id": "NP_109589.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030664.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-127-2630T>A",
"hgvs_p": null,
"transcript": "ENST00000899248.1",
"protein_id": "ENSP00000569307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899248.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000899250.1",
"protein_id": "ENSP00000569309.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899250.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000899253.1",
"protein_id": "ENSP00000569312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899253.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000899254.1",
"protein_id": "ENSP00000569313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899254.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-49+15861T>A",
"hgvs_p": null,
"transcript": "ENST00000899256.1",
"protein_id": "ENSP00000569315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899256.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-49+15885T>A",
"hgvs_p": null,
"transcript": "ENST00000899257.1",
"protein_id": "ENSP00000569316.1",
"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": "ENST00000899257.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "PTER",
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"hgvs_c": "c.-175-13565T>A",
"hgvs_p": null,
"transcript": "ENST00000899258.1",
"protein_id": "ENSP00000569317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899258.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-127-2630T>A",
"hgvs_p": null,
"transcript": "ENST00000899259.1",
"protein_id": "ENSP00000569318.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 349,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899259.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-238-16143T>A",
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"transcript": "ENST00000916347.1",
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"biotype": "protein_coding",
"feature": "ENST00000916347.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-175-13565T>A",
"hgvs_p": null,
"transcript": "ENST00000916348.1",
"protein_id": "ENSP00000586407.1",
"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": "ENST00000916348.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
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"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-127-2630T>A",
"hgvs_p": null,
"transcript": "ENST00000955113.1",
"protein_id": "ENSP00000625172.1",
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"biotype": "protein_coding",
"feature": "ENST00000955113.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-127-2630T>A",
"hgvs_p": null,
"transcript": "ENST00000955114.1",
"protein_id": "ENSP00000625173.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000955114.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "NM_001261837.2",
"protein_id": "NP_001248766.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
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"cds_length": 909,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001261837.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "PTER",
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"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000899249.1",
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"feature": "ENST00000899249.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "PTER",
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"hgvs_c": "c.-48-19835T>A",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PTER",
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"hgvs_c": "c.-127-2630T>A",
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"transcript": "ENST00000899252.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899252.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PTER",
"gene_hgnc_id": 9590,
"hgvs_c": "c.-48-19835T>A",
"hgvs_p": null,
"transcript": "ENST00000899255.1",
"protein_id": "ENSP00000569314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899255.1"
},
{
"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": 5,
"intron_rank": 2,
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}
],
"message": null
}