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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: 11-32392705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32392705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 32392705,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000452863.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "NM_024426.6",
"protein_id": "NP_077744.4",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 522,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "ENST00000452863.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000452863.10",
"protein_id": "ENSP00000415516.5",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 522,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": "NM_024426.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "ENST00000639563.4",
"protein_id": "ENSP00000492269.3",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 505,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "ENST00000332351.9",
"protein_id": "ENSP00000331327.5",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 502,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Arg222Cys",
"transcript": "ENST00000379079.8",
"protein_id": "ENSP00000368370.2",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 302,
"cds_start": 664,
"cds_end": null,
"cds_length": 909,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Arg214Cys",
"transcript": "ENST00000640146.2",
"protein_id": "ENSP00000491984.2",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 297,
"cds_start": 640,
"cds_end": null,
"cds_length": 894,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*499C>T",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "n.*499C>T",
"hgvs_p": null,
"transcript": "ENST00000379077.9",
"protein_id": "ENSP00000368368.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "NM_024424.5",
"protein_id": "NP_077742.3",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 519,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000448076.9",
"protein_id": "ENSP00000413452.5",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 519,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Arg437Cys",
"transcript": "NM_001407044.1",
"protein_id": "NP_001393973.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 517,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "NM_001407045.1",
"protein_id": "NP_001393974.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 505,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "NM_000378.6",
"protein_id": "NP_000369.4",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 502,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "NM_001407046.1",
"protein_id": "NP_001393975.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 491,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Arg398Cys",
"transcript": "NM_001407047.1",
"protein_id": "NP_001393976.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 478,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "NM_001407049.1",
"protein_id": "NP_001393978.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 474,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "NM_001407050.1",
"protein_id": "NP_001393979.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 464,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Cys",
"transcript": "NM_001429031.1",
"protein_id": "NP_001415960.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 449,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Cys",
"transcript": "NM_001429032.1",
"protein_id": "NP_001415961.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 446,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Cys",
"transcript": "ENST00000850608.1",
"protein_id": "ENSP00000520896.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 446,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "NM_001429033.1",
"protein_id": "NP_001415962.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 432,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 2855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "ENST00000850609.1",
"protein_id": "ENSP00000520897.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 432,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WT1",
"gene_hgnc_id": 12796,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "NM_001429034.1",
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{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000452863.10",
"gene_symbol": "WT1",
"hgnc_id": 12796,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys"
}
],
"clinvar_disease": " type 4,11p partial monosomy syndrome,Drash syndrome,Frasier syndrome,Meacham syndrome,Nephrotic syndrome,Wilms tumor 1,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Meacham syndrome|not provided|Wilms tumor 1;Drash syndrome;11p partial monosomy syndrome;Frasier syndrome|Nephrotic syndrome, type 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}