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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: 7-144765897-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=144765897&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPK1",
"hgnc_id": 17358,
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_022445.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 12375,
"alphamissense_prediction": null,
"alphamissense_score": 0.0755,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "7",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency,Inborn genetic diseases,TPK1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007378876209259033,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 201,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_022445.4",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2439,
"cdna_start": 201,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000360057.7",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": 3,
"exon_rank_end": null,
"feature": "ENST00000378098.8",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "n.98G>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": "H",
"aa_end": null,
"aa_length": 260,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 180,
"cds_end": null,
"cds_length": 783,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889991.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2484,
"cdna_start": 201,
"cds_end": null,
"cds_length": 780,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889990.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 351,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001350879.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2588,
"cdna_start": 353,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889989.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": 467,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889994.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 243,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 311,
"cds_end": null,
"cds_length": 732,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889995.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 241,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 201,
"cds_end": null,
"cds_length": 726,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001350881.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337810.1",
"strand": false,
"transcript": "NM_001350881.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 212,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 149,
"cds_end": null,
"cds_length": 639,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889993.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
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"aa_length": 194,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 201,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001042482.2",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035947.1",
"strand": false,
"transcript": "NM_001042482.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 351,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
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"exon_rank_end": null,
"feature": "NM_001350880.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
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"aa_length": 194,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 201,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378099.7",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367339.3",
"strand": false,
"transcript": "ENST00000378099.7",
"transcript_support_level": 3
},
{
"aa_alt": "H",
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"aa_length": 194,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2251,
"cdna_start": 163,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889992.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"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": "H",
"aa_end": null,
"aa_length": 194,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 203,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929247.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599306.1",
"strand": false,
"transcript": "ENST00000929247.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 194,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 281,
"cds_end": null,
"cds_length": 585,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956436.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626495.1",
"strand": false,
"transcript": "ENST00000956436.1",
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},
{
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"cdna_end": null,
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"cdna_start": 179,
"cds_end": null,
"cds_length": 500,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000552881.1",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000448655.1",
"strand": false,
"transcript": "ENST00000552881.1",
"transcript_support_level": 4
},
{
"aa_alt": "H",
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"aa_length": 269,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 201,
"cds_end": null,
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"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
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"feature": "XM_011516031.2",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514333.1",
"strand": false,
"transcript": "XM_011516031.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 269,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 351,
"cds_end": null,
"cds_length": 810,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011516032.3",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514334.1",
"strand": false,
"transcript": "XM_011516032.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 269,
"aa_ref": "R",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 204,
"cds_end": null,
"cds_length": 810,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011516033.3",
"gene_hgnc_id": 17358,
"gene_symbol": "TPK1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Arg33His",
"intron_rank": null,
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],
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}
]
}