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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: 9-128613422-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128613422&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128613422,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001375318.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2477,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130438.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2477,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372739.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5070A>G",
"hgvs_p": "p.Leu1690Leu",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2472,
"cds_start": 5070,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372731.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5010A>G",
"hgvs_p": "p.Leu1670Leu",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 1670,
"aa_end": null,
"aa_length": 2452,
"cds_start": 5010,
"cds_end": null,
"cds_length": 7359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358161.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5121A>G",
"hgvs_p": "p.Leu1707Leu",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2510,
"cds_start": 5121,
"cds_end": null,
"cds_length": 7533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375318.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2506,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375310.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2506,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704202.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2498,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363759.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2498,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630866.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "ENST00000853883.1",
"protein_id": "ENSP00000523942.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2498,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853883.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5070A>G",
"hgvs_p": "p.Leu1690Leu",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2493,
"cds_start": 5070,
"cds_end": null,
"cds_length": 7482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438445.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5070A>G",
"hgvs_p": "p.Leu1690Leu",
"transcript": "ENST00000853879.1",
"protein_id": "ENSP00000523938.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2493,
"cds_start": 5070,
"cds_end": null,
"cds_length": 7482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853879.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5121A>G",
"hgvs_p": "p.Leu1707Leu",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5121,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375312.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5121A>G",
"hgvs_p": "p.Leu1707Leu",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5121,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438440.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5121A>G",
"hgvs_p": "p.Leu1707Leu",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5121,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627441.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5121A>G",
"hgvs_p": "p.Leu1707Leu",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 2489,
"cds_start": 5121,
"cds_end": null,
"cds_length": 7470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704203.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2477,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375311.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5085A>G",
"hgvs_p": "p.Leu1695Leu",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
"transcript_support_level": null,
"aa_start": 1695,
"aa_end": null,
"aa_length": 2477,
"cds_start": 5085,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706487.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5010A>G",
"hgvs_p": "p.Leu1670Leu",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 2473,
"cds_start": 5010,
"cds_end": null,
"cds_length": 7422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438444.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5010A>G",
"hgvs_p": "p.Leu1670Leu",
"transcript": "ENST00000853878.1",
"protein_id": "ENSP00000523937.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 2473,
"cds_start": 5010,
"cds_end": null,
"cds_length": 7422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853878.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5010A>G",
"hgvs_p": "p.Leu1670Leu",
"transcript": "ENST00000853884.1",
"protein_id": "ENSP00000523943.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 2473,
"cds_start": 5010,
"cds_end": null,
"cds_length": 7422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853884.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.5070A>G",
"hgvs_p": "p.Leu1690Leu",
"transcript": "NM_003127.4",
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{
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"phenotype_combined": "Developmental and epileptic encephalopathy|not specified|not provided",
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}
],
"message": null
}