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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: 14-50910056-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50910056&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PYGL",
"hgnc_id": 9725,
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Thr672Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_002863.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 227129,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": " type VI,Glycogen storage disease,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2016,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_002863.5",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Thr672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216392.8",
"protein_coding": true,
"protein_id": "NP_002854.3",
"strand": false,
"transcript": "NM_002863.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2016,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000216392.8",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Thr672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002863.5",
"protein_coding": true,
"protein_id": "ENSP00000216392.7",
"strand": false,
"transcript": "ENST00000216392.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 819,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 2069,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2016,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000532462.5",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Thr672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431657.1",
"strand": false,
"transcript": "ENST00000532462.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "T",
"aa_start": 677,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 2111,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2031,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874287.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2031C>T",
"hgvs_p": "p.Thr677Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544346.1",
"strand": false,
"transcript": "ENST00000874287.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 850,
"aa_ref": "T",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2105,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2025,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874291.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Thr675Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544350.1",
"strand": false,
"transcript": "ENST00000874291.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 846,
"aa_ref": "T",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 2541,
"cds_start": 2013,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000941158.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2013C>T",
"hgvs_p": "p.Thr671Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611217.1",
"strand": false,
"transcript": "ENST00000941158.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 844,
"aa_ref": "T",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2007,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874289.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2007C>T",
"hgvs_p": "p.Thr669Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544348.1",
"strand": false,
"transcript": "ENST00000874289.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 844,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2016,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000941160.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.2016C>T",
"hgvs_p": "p.Thr672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611219.1",
"strand": false,
"transcript": "ENST00000941160.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "T",
"aa_start": 664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1992,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000941162.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1992C>T",
"hgvs_p": "p.Thr664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611221.1",
"strand": false,
"transcript": "ENST00000941162.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 833,
"aa_ref": "T",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1974,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874290.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Thr658Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544349.1",
"strand": false,
"transcript": "ENST00000874290.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 830,
"aa_ref": "T",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 2142,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1965,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000924121.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1965C>T",
"hgvs_p": "p.Thr655Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594180.1",
"strand": false,
"transcript": "ENST00000924121.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 820,
"aa_ref": "T",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1935,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000924124.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1935C>T",
"hgvs_p": "p.Thr645Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594183.1",
"strand": false,
"transcript": "ENST00000924124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 818,
"aa_ref": "T",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1929,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000941159.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Thr643Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611218.1",
"strand": false,
"transcript": "ENST00000941159.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1914,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001163940.2",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Thr638Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157412.1",
"strand": false,
"transcript": "NM_001163940.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1914,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000544180.6",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Thr638Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443787.1",
"strand": false,
"transcript": "ENST00000544180.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1914,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874286.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1914C>T",
"hgvs_p": "p.Thr638Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544345.1",
"strand": false,
"transcript": "ENST00000874286.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 810,
"aa_ref": "T",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1905,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000924122.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1905C>T",
"hgvs_p": "p.Thr635Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594181.1",
"strand": false,
"transcript": "ENST00000924122.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 803,
"aa_ref": "T",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1884,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000924125.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1884C>T",
"hgvs_p": "p.Thr628Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594184.1",
"strand": false,
"transcript": "ENST00000924125.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 782,
"aa_ref": "T",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1821,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000924123.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1821C>T",
"hgvs_p": "p.Thr607Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594182.1",
"strand": false,
"transcript": "ENST00000924123.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 769,
"aa_ref": "T",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1862,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000874288.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.Thr594Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544347.1",
"strand": false,
"transcript": "ENST00000874288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1599,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000941161.1",
"gene_hgnc_id": 9725,
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