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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: 17-59660395-TGTCA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59660395&ref=TGTCA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CLTC",
"hgnc_id": 2092,
"hgvs_c": "c.989_992delCAGT",
"hgvs_p": "p.Ser330fs",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_001288653.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal dominant 56,Intellectual disability",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1675,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8369,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 5028,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004859.4",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269122.8",
"protein_coding": true,
"protein_id": "NP_004850.1",
"strand": true,
"transcript": "NM_004859.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1675,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8369,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 5028,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000269122.8",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004859.4",
"protein_coding": true,
"protein_id": "ENSP00000269122.3",
"strand": true,
"transcript": "ENST00000269122.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1639,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5292,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 4920,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393043.5",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376763.1",
"strand": true,
"transcript": "ENST00000393043.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1721,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6110,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 5166,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700714.2",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515154.2",
"strand": true,
"transcript": "ENST00000700714.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1686,
"aa_ref": "SV",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 5061,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935244.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.989_992delCAGT",
"hgvs_p": "p.Ser330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605303.1",
"strand": true,
"transcript": "ENST00000935244.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1682,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6490,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 5049,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000472651.6",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465200.2",
"strand": true,
"transcript": "ENST00000472651.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1680,
"aa_ref": "SV",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6073,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 5043,
"cds_start": 992,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700709.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.992_995delCAGT",
"hgvs_p": "p.Ser331fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515149.1",
"strand": true,
"transcript": "ENST00000700709.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1679,
"aa_ref": "SV",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8381,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 5040,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001288653.2",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.989_992delCAGT",
"hgvs_p": "p.Ser330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275582.1",
"strand": true,
"transcript": "NM_001288653.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1679,
"aa_ref": "SV",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6180,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 5040,
"cds_start": 989,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000580081.2",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.989_992delCAGT",
"hgvs_p": "p.Ser330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462592.2",
"strand": true,
"transcript": "ENST00000580081.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1679,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 5040,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700711.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515151.1",
"strand": true,
"transcript": "ENST00000700711.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1676,
"aa_ref": "SV",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5237,
"cdna_start": 1186,
"cds_end": null,
"cds_length": 5031,
"cds_start": 980,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700713.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.980_983delCAGT",
"hgvs_p": "p.Ser327fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515153.1",
"strand": true,
"transcript": "ENST00000700713.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": "SV",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6291,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 5028,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700707.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515147.1",
"strand": true,
"transcript": "ENST00000700707.1",
"transcript_support_level": null
},
{
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"aa_ref": "SV",
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"biotype": "protein_coding",
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"cdna_start": 1204,
"cds_end": null,
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"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935243.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605302.1",
"strand": true,
"transcript": "ENST00000935243.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1668,
"aa_ref": "SV",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 5007,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714242.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519522.1",
"strand": true,
"transcript": "ENST00000714242.1",
"transcript_support_level": null
},
{
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"aa_ref": "SV",
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"biotype": "protein_coding",
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"cdna_length": 5539,
"cdna_start": 1284,
"cds_end": null,
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"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 34,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700715.2",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515155.2",
"strand": true,
"transcript": "ENST00000700715.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1651,
"aa_ref": "SV",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6285,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 4956,
"cds_start": 884,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700712.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.884_887delCAGT",
"hgvs_p": "p.Ser295fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515152.1",
"strand": true,
"transcript": "ENST00000700712.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1644,
"aa_ref": "SV",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6207,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 4935,
"cds_start": 884,
"consequences": [
"frameshift_variant"
],
"exon_count": 33,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000714180.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.884_887delCAGT",
"hgvs_p": "p.Ser295fs",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000519469.1",
"strand": true,
"transcript": "ENST00000714180.1",
"transcript_support_level": null
},
{
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"aa_ref": "SV",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 1429,
"cds_end": null,
"cds_length": 4917,
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"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714241.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519521.1",
"strand": true,
"transcript": "ENST00000714241.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": "SV",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6407,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 4914,
"cds_start": 863,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935242.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.863_866delCAGT",
"hgvs_p": "p.Ser288fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605301.1",
"strand": true,
"transcript": "ENST00000935242.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1629,
"aa_ref": "SV",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5211,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 4890,
"cds_start": 977,
"consequences": [
"frameshift_variant"
],
"exon_count": 31,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000475458.3",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.977_980delCAGT",
"hgvs_p": "p.Ser326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461977.3",
"strand": true,
"transcript": "ENST00000475458.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1624,
"aa_ref": "SV",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 4875,
"cds_start": 803,
"consequences": [
"frameshift_variant"
],
"exon_count": 32,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891782.1",
"gene_hgnc_id": 2092,
"gene_symbol": "CLTC",
"hgvs_c": "c.803_806delCAGT",
"hgvs_p": "p.Ser268fs",
"intron_rank": null,
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