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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: 14-50912167-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50912167&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PYGL",
"hgnc_id": 9725,
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Thr586Lys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002863.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000258745",
"hgnc_id": null,
"hgvs_c": "n.-59G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000557343.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7589,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8834038972854614,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002863.5",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Thr586Lys",
"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": "K",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000216392.8",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Thr586Lys",
"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": "K",
"aa_end": null,
"aa_length": 819,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000532462.5",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Thr586Lys",
"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": "K",
"aa_end": null,
"aa_length": 852,
"aa_ref": "T",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1772,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874287.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1772C>A",
"hgvs_p": "p.Thr591Lys",
"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": "K",
"aa_end": null,
"aa_length": 850,
"aa_ref": "T",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1766,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874291.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1766C>A",
"hgvs_p": "p.Thr589Lys",
"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": "K",
"aa_end": null,
"aa_length": 846,
"aa_ref": "T",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2541,
"cds_start": 1754,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941158.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1754C>A",
"hgvs_p": "p.Thr585Lys",
"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": "K",
"aa_end": null,
"aa_length": 844,
"aa_ref": "T",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1748,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874289.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1748C>A",
"hgvs_p": "p.Thr583Lys",
"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": "K",
"aa_end": null,
"aa_length": 844,
"aa_ref": "T",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2770,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 2535,
"cds_start": 1757,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941160.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1757C>A",
"hgvs_p": "p.Thr586Lys",
"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": "K",
"aa_end": null,
"aa_length": 839,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941162.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1733C>A",
"hgvs_p": "p.Thr578Lys",
"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": "K",
"aa_end": null,
"aa_length": 833,
"aa_ref": "T",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874290.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Thr572Lys",
"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": "K",
"aa_end": null,
"aa_length": 830,
"aa_ref": "T",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2841,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924121.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Thr572Lys",
"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": "K",
"aa_end": null,
"aa_length": 820,
"aa_ref": "T",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2463,
"cds_start": 1676,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924124.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1676C>A",
"hgvs_p": "p.Thr559Lys",
"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": "K",
"aa_end": null,
"aa_length": 818,
"aa_ref": "T",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 2457,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000941159.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1670C>A",
"hgvs_p": "p.Thr557Lys",
"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": "K",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001163940.2",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Lys",
"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": "K",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000544180.6",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Lys",
"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": "K",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874286.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1655C>A",
"hgvs_p": "p.Thr552Lys",
"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": "K",
"aa_end": null,
"aa_length": 810,
"aa_ref": "T",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 2433,
"cds_start": 1646,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924122.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1646C>A",
"hgvs_p": "p.Thr549Lys",
"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": "K",
"aa_end": null,
"aa_length": 803,
"aa_ref": "T",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1625,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924125.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1625C>A",
"hgvs_p": "p.Thr542Lys",
"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": "K",
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"aa_length": 782,
"aa_ref": "T",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000924123.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1562C>A",
"hgvs_p": "p.Thr521Lys",
"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": "K",
"aa_end": null,
"aa_length": 769,
"aa_ref": "T",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000874288.1",
"gene_hgnc_id": 9725,
"gene_symbol": "PYGL",
"hgvs_c": "c.1523C>A",
"hgvs_p": "p.Thr508Lys",
"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": "K",
"aa_end": null,
"aa_length": 708,
"aa_ref": "T",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
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}