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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: 6-122717826-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=122717826&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 122717826,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001270394.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "NM_181795.3",
"protein_id": "NP_861460.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368452.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181795.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000368452.7",
"protein_id": "ENSP00000357437.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181795.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368452.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000354275.2",
"protein_id": "ENSP00000346227.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354275.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000392490.5",
"protein_id": "ENSP00000376280.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392490.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000392491.6",
"protein_id": "ENSP00000376281.1",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392491.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Val42Ala",
"transcript": "ENST00000696716.1",
"protein_id": "ENSP00000512829.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 109,
"cds_start": 125,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696716.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.59T>C",
"hgvs_p": "p.Val20Ala",
"transcript": "ENST00000368446.1",
"protein_id": "ENSP00000357431.1",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 87,
"cds_start": 59,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368446.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Val18Ala",
"transcript": "NM_001270394.2",
"protein_id": "NP_001257323.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 85,
"cds_start": 53,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270394.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Val18Ala",
"transcript": "NM_001270395.2",
"protein_id": "NP_001257324.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 85,
"cds_start": 53,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270395.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Val18Ala",
"transcript": "ENST00000258014.3",
"protein_id": "ENSP00000258014.3",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 85,
"cds_start": 53,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258014.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.53T>C",
"hgvs_p": "p.Val18Ala",
"transcript": "ENST00000615438.4",
"protein_id": "ENSP00000480824.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 85,
"cds_start": 53,
"cds_end": null,
"cds_length": 258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615438.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "NM_001270393.2",
"protein_id": "NP_001257322.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270393.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "NM_032471.6",
"protein_id": "NP_115860.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032471.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "NM_181794.3",
"protein_id": "NP_861459.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181794.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000368448.5",
"protein_id": "ENSP00000357433.1",
"transcript_support_level": 5,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368448.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884759.1",
"protein_id": "ENSP00000554818.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884759.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884760.1",
"protein_id": "ENSP00000554819.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884760.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884761.1",
"protein_id": "ENSP00000554820.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884761.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884762.1",
"protein_id": "ENSP00000554821.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884762.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884763.1",
"protein_id": "ENSP00000554822.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884763.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884764.1",
"protein_id": "ENSP00000554823.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884764.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKIB",
"gene_hgnc_id": 9018,
"hgvs_c": "c.32T>C",
"hgvs_p": "p.Val11Ala",
"transcript": "ENST00000884765.1",
"protein_id": "ENSP00000554824.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 78,
"cds_start": 32,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884765.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
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"phenotype_combined": "not specified",
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],
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}