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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: 7-144453608-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=144453608&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TPK1",
"hgnc_id": 17358,
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_022445.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 772,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022445.4",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360057.7",
"protein_coding": true,
"protein_id": "NP_071890.2",
"strand": false,
"transcript": "NM_022445.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 772,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000360057.7",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022445.4",
"protein_coding": true,
"protein_id": "ENSP00000353165.3",
"strand": false,
"transcript": "ENST00000360057.7",
"transcript_support_level": 1
},
{
"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": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378098.8",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "n.*425G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000367338.4",
"strand": false,
"transcript": "ENST00000378098.8",
"transcript_support_level": 1
},
{
"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": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000482940.5",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "n.*700G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449909.1",
"strand": false,
"transcript": "ENST00000482940.5",
"transcript_support_level": 1
},
{
"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": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378098.8",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "n.*425G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000367338.4",
"strand": false,
"transcript": "ENST00000378098.8",
"transcript_support_level": 1
},
{
"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": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000482940.5",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "n.*700G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449909.1",
"strand": false,
"transcript": "ENST00000482940.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 260,
"aa_ref": "G",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 802,
"cds_end": null,
"cds_length": 783,
"cds_start": 720,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889991.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Gly240Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560050.1",
"strand": false,
"transcript": "ENST00000889991.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 259,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 820,
"cds_end": null,
"cds_length": 780,
"cds_start": 717,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889990.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Gly239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560049.1",
"strand": false,
"transcript": "ENST00000889990.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 922,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350879.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337808.1",
"strand": false,
"transcript": "NM_001350879.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 924,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889989.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560048.1",
"strand": false,
"transcript": "ENST00000889989.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889994.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560053.1",
"strand": false,
"transcript": "ENST00000889994.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 243,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 882,
"cds_end": null,
"cds_length": 732,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889995.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Gly223Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560054.1",
"strand": false,
"transcript": "ENST00000889995.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": 893,
"cds_end": null,
"cds_length": 717,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350882.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337811.1",
"strand": false,
"transcript": "NM_001350882.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 834,
"cds_end": null,
"cds_length": 717,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350883.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337812.1",
"strand": false,
"transcript": "NM_001350883.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 238,
"aa_ref": "G",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 738,
"cds_end": null,
"cds_length": 717,
"cds_start": 654,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350884.2",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gly218Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337813.1",
"strand": false,
"transcript": "NM_001350884.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 212,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 627,
"cds_end": null,
"cds_length": 639,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000889993.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Gly192Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560052.1",
"strand": false,
"transcript": "ENST00000889993.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 625,
"cds_end": null,
"cds_length": 585,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001042482.2",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035947.1",
"strand": false,
"transcript": "NM_001042482.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 775,
"cds_end": null,
"cds_length": 585,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350880.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337809.1",
"strand": false,
"transcript": "NM_001350880.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 625,
"cds_end": null,
"cds_length": 585,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000378099.7",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367339.3",
"strand": false,
"transcript": "ENST00000378099.7",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 587,
"cds_end": null,
"cds_length": 585,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000889992.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560051.1",
"strand": false,
"transcript": "ENST00000889992.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 627,
"cds_end": null,
"cds_length": 585,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000929247.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gly174Gly",
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