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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: 17-82752235-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82752235&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_005993.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3579,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005993.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355528.9",
"protein_coding": true,
"protein_id": "NP_005984.3",
"strand": true,
"transcript": "NM_005993.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3579,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000355528.9",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005993.5",
"protein_coding": true,
"protein_id": "ENSP00000347719.4",
"strand": true,
"transcript": "ENST00000355528.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": 162,
"cds_end": null,
"cds_length": 3846,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684760.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507696.1",
"strand": true,
"transcript": "ENST00000684760.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 162,
"cds_end": null,
"cds_length": 3765,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684349.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508067.1",
"strand": true,
"transcript": "ENST00000684349.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 78,
"cds_end": null,
"cds_length": 3693,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000539345.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440671.2",
"strand": true,
"transcript": "ENST00000539345.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 371,
"cds_end": null,
"cds_length": 3675,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000857311.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527370.1",
"strand": true,
"transcript": "ENST00000857311.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7252,
"cdna_start": 185,
"cds_end": null,
"cds_length": 3672,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684464.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508333.1",
"strand": true,
"transcript": "ENST00000684464.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 194,
"cds_end": null,
"cds_length": 3669,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682479.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508214.1",
"strand": true,
"transcript": "ENST00000682479.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7100,
"cdna_start": 42,
"cds_end": null,
"cds_length": 3663,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684000.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506795.1",
"strand": true,
"transcript": "ENST00000684000.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3624,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959286.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629345.1",
"strand": true,
"transcript": "ENST00000959286.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 170,
"cds_end": null,
"cds_length": 3612,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959289.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629348.1",
"strand": true,
"transcript": "ENST00000959289.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1201,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 162,
"cds_end": null,
"cds_length": 3606,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000857314.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527373.1",
"strand": true,
"transcript": "ENST00000857314.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1199,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 105,
"cds_end": null,
"cds_length": 3600,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000857310.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527369.1",
"strand": true,
"transcript": "ENST00000857310.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3591,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959287.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629346.1",
"strand": true,
"transcript": "ENST00000959287.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 241,
"cds_end": null,
"cds_length": 3579,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000915788.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585847.1",
"strand": true,
"transcript": "ENST00000915788.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7108,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3528,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001411101.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398030.1",
"strand": true,
"transcript": "NM_001411101.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 188,
"cds_end": null,
"cds_length": 3528,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682722.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508364.1",
"strand": true,
"transcript": "ENST00000682722.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
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"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3498,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001411102.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398031.1",
"strand": true,
"transcript": "NM_001411102.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
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"aa_length": 1165,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 179,
"cds_end": null,
"cds_length": 3498,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684544.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507337.1",
"strand": true,
"transcript": "ENST00000684544.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7064,
"cdna_start": 174,
"cds_end": null,
"cds_length": 3495,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000683282.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506913.1",
"strand": true,
"transcript": "ENST00000683282.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "E",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 169,
"cds_end": null,
"cds_length": 3444,
"cds_start": 42,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000915790.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.42G>A",
"hgvs_p": "p.Glu14Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}