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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: 10-112980986-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=112980986&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TCF7L2",
"hgnc_id": 11641,
"hgvs_c": "c.450+16362G>C",
"hgvs_p": null,
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001367943.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 619,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001367943.1",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.450+16362G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355995.9",
"protein_coding": true,
"protein_id": "NP_001354872.1",
"strand": true,
"transcript": "NM_001367943.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 619,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": null,
"cds_end": null,
"cds_length": 1860,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355995.9",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.450+16362G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001367943.1",
"protein_coding": true,
"protein_id": "ENSP00000348274.4",
"strand": true,
"transcript": "ENST00000355995.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 602,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": null,
"cds_end": null,
"cds_length": 1809,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000627217.3",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.450+16362G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486891.1",
"strand": true,
"transcript": "ENST00000627217.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 596,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1791,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369397.8",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358404.4",
"strand": true,
"transcript": "ENST00000369397.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000629706.2",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487507.1",
"strand": true,
"transcript": "ENST00000629706.2",
"transcript_support_level": 1
},
{
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"aa_end": null,
"aa_length": 489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": 1470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355717.9",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347949.4",
"strand": true,
"transcript": "ENST00000355717.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4000,
"cdna_start": null,
"cds_end": null,
"cds_length": 1449,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538897.5",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.450+16362G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446172.1",
"strand": true,
"transcript": "ENST00000538897.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545257.6",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000440547.2",
"strand": true,
"transcript": "ENST00000545257.6",
"transcript_support_level": 1
},
{
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"aa_ref": 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,
"cds_length": 1380,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
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"feature": "ENST00000352065.10",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344823.5",
"strand": true,
"transcript": "ENST00000352065.10",
"transcript_support_level": 1
},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000369395.6",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
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"mane_plus": null,
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"protein_coding": true,
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},
{
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],
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"feature": "ENST00000534894.5",
"gene_hgnc_id": 11641,
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},
{
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],
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"feature": "ENST00000867576.1",
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},
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},
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],
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"feature": "ENST00000928216.1",
"gene_hgnc_id": 11641,
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"protein_coding": true,
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},
{
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"protein_coding": true,
"protein_id": "ENSP00000598273.1",
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},
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],
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"feature": "ENST00000928218.1",
"gene_hgnc_id": 11641,
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"protein_coding": true,
"protein_id": "ENSP00000598277.1",
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"transcript": "ENST00000928218.1",
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},
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"consequences": [
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],
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"feature": "ENST00000928217.1",
"gene_hgnc_id": 11641,
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"feature": "ENST00000949140.1",
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},
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],
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"feature": "ENST00000867581.1",
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},
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"consequences": [
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],
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"feature": "ENST00000867582.1",
"gene_hgnc_id": 11641,
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"hgvs_c": "c.381+29379G>C",
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"protein_coding": true,
"protein_id": "ENSP00000537641.1",
"strand": true,
"transcript": "ENST00000867582.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 14,
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"feature": "ENST00000867566.1",
"gene_hgnc_id": 11641,
"gene_symbol": "TCF7L2",
"hgvs_c": "c.381+29379G>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000537625.1",
"strand": true,
"transcript": "ENST00000867566.1",
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},
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