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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: 13-113597687-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113597687&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TFDP1",
"hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_007111.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 27642,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007111.5",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375370.10",
"protein_coding": true,
"protein_id": "NP_009042.1",
"strand": true,
"transcript": "NM_007111.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375370.10",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007111.5",
"protein_coding": true,
"protein_id": "ENSP00000364519.4",
"strand": true,
"transcript": "ENST00000375370.10",
"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": 2451,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960066.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630125.1",
"strand": true,
"transcript": "ENST00000960066.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 472,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": null,
"cds_end": null,
"cds_length": 1419,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960060.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630119.1",
"strand": true,
"transcript": "ENST00000960060.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866241.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536300.1",
"strand": true,
"transcript": "ENST00000866241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866245.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536304.1",
"strand": true,
"transcript": "ENST00000866245.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866248.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536307.1",
"strand": true,
"transcript": "ENST00000866248.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000866252.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536311.1",
"strand": true,
"transcript": "ENST00000866252.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927707.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597766.1",
"strand": true,
"transcript": "ENST00000927707.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": null,
"cds_end": null,
"cds_length": 1233,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927708.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597767.1",
"strand": true,
"transcript": "ENST00000927708.1",
"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": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927711.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597770.1",
"strand": true,
"transcript": "ENST00000927711.1",
"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": 2825,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000927712.1",
"gene_hgnc_id": 11749,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597771.1",
"strand": true,
"transcript": "ENST00000927712.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000960058.1",
"gene_hgnc_id": 11749,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630117.1",
"strand": true,
"transcript": "ENST00000960058.1",
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},
{
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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": 13,
"exon_rank": null,
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"feature": "ENST00000960062.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630121.1",
"strand": true,
"transcript": "ENST00000960062.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000960064.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630123.1",
"strand": true,
"transcript": "ENST00000960064.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000960065.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630124.1",
"strand": true,
"transcript": "ENST00000960065.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000866242.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000536301.1",
"strand": true,
"transcript": "ENST00000866242.1",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000866244.1",
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},
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],
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"feature": "ENST00000866250.1",
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000927710.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597769.1",
"strand": true,
"transcript": "ENST00000927710.1",
"transcript_support_level": null
},
{
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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": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000927715.1",
"gene_hgnc_id": 11749,
"gene_symbol": "TFDP1",
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597774.1",
"strand": true,
"transcript": "ENST00000927715.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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