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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: 17-5514771-GGAGTCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5514771&ref=GGAGTCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5514771,
"ref": "GGAGTCC",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "NM_033004.4",
"consequences": [
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4399_4404delGGACTC",
"hgvs_p": "p.Gly1467_Leu1468del",
"transcript": "NM_033004.4",
"protein_id": "NP_127497.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1473,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4956,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "ENST00000572272.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4399_4404delGGACTC",
"hgvs_p": "p.Gly1467_Leu1468del",
"transcript": "ENST00000572272.6",
"protein_id": "ENSP00000460475.1",
"transcript_support_level": 1,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1473,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4956,
"cdna_end": null,
"cdna_length": 5610,
"mane_select": "NM_033004.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4309_4314delGGACTC",
"hgvs_p": "p.Gly1437_Leu1438del",
"transcript": "ENST00000354411.8",
"protein_id": "ENSP00000346390.3",
"transcript_support_level": 1,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4309,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 4314,
"cdna_end": null,
"cdna_length": 4780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4267_4272delGGACTC",
"hgvs_p": "p.Gly1423_Leu1424del",
"transcript": "ENST00000269280.9",
"protein_id": "ENSP00000269280.4",
"transcript_support_level": 1,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4491,
"cdna_end": null,
"cdna_length": 5136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4267_4272delGGACTC",
"hgvs_p": "p.Gly1423_Leu1424del",
"transcript": "ENST00000571451.7",
"protein_id": "ENSP00000459661.3",
"transcript_support_level": 1,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4794,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4177_4182delGGACTC",
"hgvs_p": "p.Gly1393_Leu1394del",
"transcript": "ENST00000577119.5",
"protein_id": "ENSP00000460216.1",
"transcript_support_level": 1,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1399,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.820+2969_820+2974delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000574512.1",
"protein_id": null,
"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": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4411_4416delGGACTC",
"hgvs_p": "p.Gly1471_Leu1472del",
"transcript": "ENST00000699633.1",
"protein_id": "ENSP00000514491.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4411,
"cds_end": null,
"cds_length": 4434,
"cdna_start": 4961,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4399_4404delGGACTC",
"hgvs_p": "p.Gly1467_Leu1468del",
"transcript": "ENST00000617618.5",
"protein_id": "ENSP00000478516.1",
"transcript_support_level": 5,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1473,
"cds_start": 4399,
"cds_end": null,
"cds_length": 4422,
"cdna_start": 4770,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4309_4314delGGACTC",
"hgvs_p": "p.Gly1437_Leu1438del",
"transcript": "NM_033006.4",
"protein_id": "NP_127499.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1443,
"cds_start": 4309,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 4866,
"cdna_end": null,
"cdna_length": 5520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4267_4272delGGACTC",
"hgvs_p": "p.Gly1423_Leu1424del",
"transcript": "NM_014922.5",
"protein_id": "NP_055737.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4824,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4267_4272delGGACTC",
"hgvs_p": "p.Gly1423_Leu1424del",
"transcript": "ENST00000576905.6",
"protein_id": "ENSP00000458303.2",
"transcript_support_level": 4,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4720,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4177_4182delGGACTC",
"hgvs_p": "p.Gly1393_Leu1394del",
"transcript": "NM_033007.4",
"protein_id": "NP_127500.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1399,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 4734,
"cdna_end": null,
"cdna_length": 5388,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1172_*1177delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699586.1",
"protein_id": "ENSP00000514458.1",
"transcript_support_level": null,
"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": 5424,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*2117_*2122delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699615.1",
"protein_id": "ENSP00000514479.1",
"transcript_support_level": null,
"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": 5669,
"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": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1780_*1785delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699629.1",
"protein_id": "ENSP00000514488.1",
"transcript_support_level": null,
"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": 7294,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1751_*1756delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699632.1",
"protein_id": "ENSP00000514490.1",
"transcript_support_level": null,
"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": 5132,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.1561_1566delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699635.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2068,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.7114_7119delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699636.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7620,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*3584_*3589delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699642.1",
"protein_id": "ENSP00000514495.1",
"transcript_support_level": null,
"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": 5238,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*4018_*4023delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699643.1",
"protein_id": "ENSP00000514496.1",
"transcript_support_level": null,
"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": 5171,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*5955_*5960delGGACTC",
"hgvs_p": null,
"transcript": "ENST00000699644.1",
"protein_id": "ENSP00000514497.1",
"transcript_support_level": null,
"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": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033004.4",
"gene_symbol": "NLRP1",
"hgnc_id": 14374,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.4399_4404delGGACTC",
"hgvs_p": "p.Gly1467_Leu1468del"
}
],
"clinvar_disease": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}