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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: 5-146455186-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=146455186&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 146455186,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001382548.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001382548.1",
"protein_id": "NP_001369477.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1115,
"cds_start": 192,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679501.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382548.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000679501.2",
"protein_id": "ENSP00000505217.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1115,
"cds_start": 192,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382548.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679501.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000296702.9",
"protein_id": "ENSP00000296702.5",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1098,
"cds_start": 192,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296702.9"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000394421.7",
"protein_id": "ENSP00000377943.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1077,
"cds_start": 192,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394421.7"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000914700.1",
"protein_id": "ENSP00000584759.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1108,
"cds_start": 192,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914700.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_006706.4",
"protein_id": "NP_006697.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1098,
"cds_start": 192,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006706.4"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.135delG",
"hgvs_p": "p.Pro46fs",
"transcript": "NM_001400082.1",
"protein_id": "NP_001387011.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1096,
"cds_start": 135,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400082.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000914698.1",
"protein_id": "ENSP00000584757.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1095,
"cds_start": 192,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914698.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400077.1",
"protein_id": "NP_001387006.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1094,
"cds_start": 192,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400077.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.225delG",
"hgvs_p": "p.Pro76fs",
"transcript": "ENST00000914702.1",
"protein_id": "ENSP00000584761.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 1088,
"cds_start": 225,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914702.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001040006.2",
"protein_id": "NP_001035095.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1077,
"cds_start": 192,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040006.2"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400083.1",
"protein_id": "NP_001387012.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1072,
"cds_start": 192,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400083.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400084.1",
"protein_id": "NP_001387013.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1070,
"cds_start": 192,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400084.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000914697.1",
"protein_id": "ENSP00000584756.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1070,
"cds_start": 192,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914697.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400085.1",
"protein_id": "NP_001387014.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1066,
"cds_start": 192,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400085.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.132delG",
"hgvs_p": "p.Pro45fs",
"transcript": "NM_001400092.1",
"protein_id": "NP_001387021.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 1057,
"cds_start": 132,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400092.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400093.1",
"protein_id": "NP_001387022.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1049,
"cds_start": 192,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400093.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000914696.1",
"protein_id": "ENSP00000584755.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1049,
"cds_start": 192,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914696.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400094.1",
"protein_id": "NP_001387023.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1047,
"cds_start": 192,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400094.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "NM_001400095.1",
"protein_id": "NP_001387024.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1047,
"cds_start": 192,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400095.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000914701.1",
"protein_id": "ENSP00000584760.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1040,
"cds_start": 192,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914701.1"
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCERG1",
"gene_hgnc_id": 15630,
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs",
"transcript": "ENST00000949116.1",
"protein_id": "ENSP00000619175.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1037,
"cds_start": 192,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949116.1"
},
{
"aa_ref": "R",
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001382548.1",
"gene_symbol": "TCERG1",
"hgnc_id": 15630,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.192delG",
"hgvs_p": "p.Pro65fs"
}
],
"clinvar_disease": "Colorectal cancer",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Colorectal cancer",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}