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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: 6-18132147-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18132147&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPMT",
"hgnc_id": 12014,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_000367.5",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000307971",
"hgnc_id": null,
"hgvs_c": "n.267+9041A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000830125.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1994,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.01,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9435114860534668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 700,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000367.5",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309983.5",
"protein_coding": true,
"protein_id": "NP_000358.1",
"strand": false,
"transcript": "NM_000367.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 700,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000309983.5",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000367.5",
"protein_coding": true,
"protein_id": "ENSP00000312304.4",
"strand": false,
"transcript": "ENST00000309983.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3655,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001346817.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333746.1",
"strand": false,
"transcript": "NM_001346817.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 988,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864360.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534419.1",
"strand": false,
"transcript": "ENST00000864360.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 762,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864362.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534421.1",
"strand": false,
"transcript": "ENST00000864362.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864363.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534422.1",
"strand": false,
"transcript": "ENST00000864363.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 820,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864364.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534423.1",
"strand": false,
"transcript": "ENST00000864364.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 818,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864366.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534425.1",
"strand": false,
"transcript": "ENST00000864366.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2079,
"cdna_start": 995,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864367.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534426.1",
"strand": false,
"transcript": "ENST00000864367.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 676,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864368.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534427.1",
"strand": false,
"transcript": "ENST00000864368.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 245,
"aa_ref": "I",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 824,
"cds_end": null,
"cds_length": 738,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864369.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534428.1",
"strand": false,
"transcript": "ENST00000864369.1",
"transcript_support_level": null
},
{
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"aa_length": 245,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 808,
"cds_end": null,
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"cds_start": 611,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000864371.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534430.1",
"strand": false,
"transcript": "ENST00000864371.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 732,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 8,
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"feature": "ENST00000929330.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599389.1",
"strand": false,
"transcript": "ENST00000929330.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1069,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963990.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634049.1",
"strand": false,
"transcript": "ENST00000963990.1",
"transcript_support_level": null
},
{
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"aa_length": 220,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 637,
"cds_end": null,
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"cds_start": 536,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864365.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.536T>C",
"hgvs_p": "p.Ile179Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534424.1",
"strand": false,
"transcript": "ENST00000864365.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 214,
"aa_ref": "I",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 562,
"cds_end": null,
"cds_length": 645,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000929331.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Ile173Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599390.1",
"strand": false,
"transcript": "ENST00000929331.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1141,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419289.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275245.1",
"strand": false,
"transcript": "XM_047419289.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 693,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001346818.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.581-1367T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333747.1",
"strand": false,
"transcript": "NM_001346818.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864361.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.581-1367T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534420.1",
"strand": false,
"transcript": "ENST00000864361.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 230,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": null,
"cds_end": null,
"cds_length": 693,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864370.1",
"gene_hgnc_id": 12014,
"gene_symbol": "TPMT",
"hgvs_c": "c.581-1367T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534429.1",
"strand": false,
"transcript": "ENST00000864370.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 230,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": null,
"cds_end": null,
"cds_length": 693,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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