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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: 8-143816728-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143816728&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143816728,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001362895.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Glu",
"transcript": "NM_078480.3",
"protein_id": "NP_510965.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 559,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000526683.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078480.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Glu",
"transcript": "ENST00000526683.6",
"protein_id": "ENSP00000434359.1",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 559,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_078480.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526683.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Glu",
"transcript": "ENST00000349157.10",
"protein_id": "ENSP00000322036.7",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 542,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349157.10"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Glu",
"transcript": "ENST00000453551.6",
"protein_id": "ENSP00000402953.2",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 516,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453551.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1292G>A",
"hgvs_p": "p.Gly431Glu",
"transcript": "ENST00000313352.11",
"protein_id": "ENSP00000322016.7",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 499,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313352.11"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Glu",
"transcript": "NM_001362895.2",
"protein_id": "NP_001349824.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 596,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362895.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Glu",
"transcript": "NM_001362896.2",
"protein_id": "NP_001349825.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 596,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362896.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Glu",
"transcript": "ENST00000533162.2",
"protein_id": "ENSP00000433403.2",
"transcript_support_level": 3,
"aa_start": 528,
"aa_end": null,
"aa_length": 596,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533162.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Gly528Glu",
"transcript": "ENST00000703847.1",
"protein_id": "ENSP00000515499.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 596,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703847.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Gly516Glu",
"transcript": "ENST00000533362.2",
"protein_id": "ENSP00000515502.1",
"transcript_support_level": 5,
"aa_start": 516,
"aa_end": null,
"aa_length": 584,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533362.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1547G>A",
"hgvs_p": "p.Gly516Glu",
"transcript": "ENST00000703850.1",
"protein_id": "ENSP00000515503.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 584,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703850.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Gly511Glu",
"transcript": "NM_001362897.2",
"protein_id": "NP_001349826.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 579,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362897.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Glu",
"transcript": "ENST00000703866.1",
"protein_id": "ENSP00000515511.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 559,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703866.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Glu",
"transcript": "NM_001271098.2",
"protein_id": "NP_001258027.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 558,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271098.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Glu",
"transcript": "ENST00000527744.6",
"protein_id": "ENSP00000436131.2",
"transcript_support_level": 2,
"aa_start": 490,
"aa_end": null,
"aa_length": 558,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527744.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Gly489Glu",
"transcript": "ENST00000963445.1",
"protein_id": "ENSP00000633504.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 557,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963445.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Gly482Glu",
"transcript": "ENST00000897215.1",
"protein_id": "ENSP00000567274.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 550,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897215.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Gly474Glu",
"transcript": "NM_014281.5",
"protein_id": "NP_055096.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 542,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014281.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Gly473Glu",
"transcript": "NM_001271096.2",
"protein_id": "NP_001258025.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 541,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271096.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Gly473Glu",
"transcript": "ENST00000526459.6",
"protein_id": "ENSP00000432610.2",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 541,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526459.6"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1415G>A",
"hgvs_p": "p.Gly472Glu",
"transcript": "ENST00000934071.1",
"protein_id": "ENSP00000604130.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 540,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934071.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1412G>A",
"hgvs_p": "p.Gly471Glu",
"transcript": "ENST00000963446.1",
"protein_id": "ENSP00000633505.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 539,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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{
"score": 12,
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"pathogenic_score": 12,
"criteria": [
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"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}