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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: 17-62603107-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=62603107&ref=A&alt=T&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": "TLK2",
"hgnc_id": 11842,
"hgvs_c": "c.1925+927A>T",
"hgvs_p": null,
"inheritance_mode": "AD,SD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001284333.3",
"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": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006852.6",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346027.10",
"protein_coding": true,
"protein_id": "NP_006843.2",
"strand": true,
"transcript": "NM_006852.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5640,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000346027.10",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006852.6",
"protein_coding": true,
"protein_id": "ENSP00000275780.7",
"strand": true,
"transcript": "ENST00000346027.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 772,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": null,
"cds_end": null,
"cds_length": 2319,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326270.13",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1925+927A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316512.9",
"strand": true,
"transcript": "ENST00000326270.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343388.11",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1763+927A>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340800.7",
"strand": true,
"transcript": "ENST00000343388.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 601,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3608,
"cdna_start": null,
"cds_end": null,
"cds_length": 1806,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582809.5",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1412+927A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463595.1",
"strand": true,
"transcript": "ENST00000582809.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 772,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5410,
"cdna_start": null,
"cds_end": null,
"cds_length": 2319,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001284333.3",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1925+927A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271262.1",
"strand": true,
"transcript": "NM_001284333.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 772,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": null,
"cds_end": null,
"cds_length": 2319,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902353.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1925+927A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572412.1",
"strand": true,
"transcript": "ENST00000902353.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 764,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": null,
"cds_end": null,
"cds_length": 2295,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375269.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1901+927A>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362198.1",
"strand": true,
"transcript": "NM_001375269.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5638,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375270.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362199.1",
"strand": true,
"transcript": "NM_001375270.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375271.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362200.1",
"strand": true,
"transcript": "NM_001375271.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5377,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682085.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506744.1",
"strand": true,
"transcript": "ENST00000682085.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 750,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902350.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572409.1",
"strand": true,
"transcript": "ENST00000902350.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000902351.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572410.1",
"strand": true,
"transcript": "ENST00000902351.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902354.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572413.1",
"strand": true,
"transcript": "ENST00000902354.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"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": 22,
"exon_rank": null,
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"feature": "ENST00000902355.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572414.1",
"strand": true,
"transcript": "ENST00000902355.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963456.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633515.1",
"strand": true,
"transcript": "ENST00000963456.1",
"transcript_support_level": null
},
{
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"aa_length": 750,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3977,
"cdna_start": null,
"cds_end": null,
"cds_length": 2253,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963463.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1859+927A>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633522.1",
"strand": true,
"transcript": "ENST00000963463.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000963464.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1856+927A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633523.1",
"strand": true,
"transcript": "ENST00000963464.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000963467.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1856+927A>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000633526.1",
"strand": true,
"transcript": "ENST00000963467.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3678,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931875.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1829+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601934.1",
"strand": true,
"transcript": "ENST00000931875.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 740,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": null,
"cds_end": null,
"cds_length": 2223,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931880.1",
"gene_hgnc_id": 11842,
"gene_symbol": "TLK2",
"hgvs_c": "c.1829+927A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601939.1",
"strand": true,
"transcript": "ENST00000931880.1",
"transcript_support_level": null
},
{
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