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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: 17-75522219-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75522219&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TSEN54",
"hgnc_id": 27561,
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_207346.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Olivopontocerebellar hypoplasia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 526,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_207346.3",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333213.11",
"protein_coding": true,
"protein_id": "NP_997229.2",
"strand": true,
"transcript": "NM_207346.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 526,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000333213.11",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207346.3",
"protein_coding": true,
"protein_id": "ENSP00000327487.6",
"strand": true,
"transcript": "ENST00000333213.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 597,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000680999.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504984.1",
"strand": true,
"transcript": "ENST00000680999.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 578,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915433.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585492.1",
"strand": true,
"transcript": "ENST00000915433.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 569,
"aa_ref": "E",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1267,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884602.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Glu423*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554661.1",
"strand": true,
"transcript": "ENST00000884602.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 562,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1689,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545228.3",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438169.3",
"strand": true,
"transcript": "ENST00000545228.3",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 542,
"aa_ref": "E",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 984,
"cds_end": null,
"cds_length": 1629,
"cds_start": 973,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915436.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.973G>T",
"hgvs_p": "p.Glu325*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585495.1",
"strand": true,
"transcript": "ENST00000915436.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 515,
"aa_ref": "E",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1105,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947129.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1105G>T",
"hgvs_p": "p.Glu369*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617188.1",
"strand": true,
"transcript": "ENST00000947129.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 511,
"aa_ref": "E",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1093,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884603.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1093G>T",
"hgvs_p": "p.Glu365*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554662.1",
"strand": true,
"transcript": "ENST00000884603.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 489,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884604.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554663.1",
"strand": true,
"transcript": "ENST00000884604.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "E",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1138,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000884601.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.1138G>T",
"hgvs_p": "p.Glu380*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554660.1",
"strand": true,
"transcript": "ENST00000884601.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 432,
"aa_ref": "E",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1299,
"cds_start": 973,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915434.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.973G>T",
"hgvs_p": "p.Glu325*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585493.1",
"strand": true,
"transcript": "ENST00000915434.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1278,
"cds_start": 835,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434205.8",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.835G>T",
"hgvs_p": "p.Glu279*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406559.4",
"strand": true,
"transcript": "ENST00000434205.8",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 424,
"aa_ref": "E",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1275,
"cds_start": 832,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000947128.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.832G>T",
"hgvs_p": "p.Glu278*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617187.1",
"strand": true,
"transcript": "ENST00000947128.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1571,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915435.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.895+264G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585494.1",
"strand": true,
"transcript": "ENST00000915435.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 400,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": null,
"cds_end": null,
"cds_length": 1203,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915432.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "c.874+264G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585491.1",
"strand": true,
"transcript": "ENST00000915432.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000579449.2",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.937G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000579449.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3036,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000580013.6",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.1341G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000580013.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 798,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000583173.5",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.*134G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463619.1",
"strand": true,
"transcript": "ENST00000583173.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679370.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.1719G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000679370.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679429.1",
"gene_hgnc_id": 27561,
"gene_symbol": "TSEN54",
"hgvs_c": "n.*596G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505403.1",
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