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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: 3-146455352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146455352&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146455352,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199978.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_001395437.1",
"protein_id": "NP_001382366.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696113.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395437.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000696113.1",
"protein_id": "ENSP00000512407.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395437.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696113.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"transcript": "ENST00000613069.4",
"protein_id": "ENSP00000478902.1",
"transcript_support_level": 1,
"aa_start": 139,
"aa_end": null,
"aa_length": 293,
"cds_start": 415,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613069.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000336685.6",
"protein_id": "ENSP00000338707.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336685.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000610787.5",
"protein_id": "ENSP00000478044.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610787.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "NM_001199978.3",
"protein_id": "NP_001186907.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199978.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "NM_001395440.1",
"protein_id": "NP_001382369.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395440.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "ENST00000497985.5",
"protein_id": "ENSP00000420132.1",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497985.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "ENST00000696119.1",
"protein_id": "ENSP00000512413.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696119.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"transcript": "NM_001199979.1",
"protein_id": "NP_001186908.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 293,
"cds_start": 415,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199979.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_001395438.1",
"protein_id": "NP_001382367.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395438.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_001395439.1",
"protein_id": "NP_001382368.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395439.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "NM_020359.4",
"protein_id": "NP_065092.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020359.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000696120.1",
"protein_id": "ENSP00000512414.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 224,
"cds_start": 208,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696120.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Gly70Arg",
"transcript": "ENST00000489015.1",
"protein_id": "ENSP00000418444.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 160,
"cds_start": 208,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489015.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_024453670.2",
"protein_id": "XP_024309438.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453670.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_024453671.2",
"protein_id": "XP_024309439.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453671.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_024453672.2",
"protein_id": "XP_024309440.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453672.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_024453673.2",
"protein_id": "XP_024309441.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453673.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.427G>A",
"hgvs_p": "p.Gly143Arg",
"transcript": "XM_024453674.2",
"protein_id": "XP_024309442.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 297,
"cds_start": 427,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453674.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"transcript": "XM_011513022.4",
"protein_id": "XP_011511324.3",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 293,
"cds_start": 415,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513022.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Gly139Arg",
"transcript": "XM_011513023.4",
"protein_id": "XP_011511325.3",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 293,
"cds_start": 415,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513023.4"
},
{
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}