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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: 22-24225369-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24225369&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGT5",
"hgnc_id": 4260,
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001099781.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.0824,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11877813935279846,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004121.5",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327365.10",
"protein_coding": true,
"protein_id": "NP_004112.2",
"strand": false,
"transcript": "NM_004121.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000327365.10",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004121.5",
"protein_coding": true,
"protein_id": "ENSP00000330080.4",
"strand": false,
"transcript": "ENST00000327365.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 1716,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398292.3",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381340.3",
"strand": false,
"transcript": "ENST00000398292.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000263112.11",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Pro428Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263112.7",
"strand": false,
"transcript": "ENST00000263112.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 643,
"aa_ref": "P",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 1813,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1457,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941039.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Pro486Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611098.1",
"strand": false,
"transcript": "ENST00000941039.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 623,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907670.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Pro466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577729.1",
"strand": false,
"transcript": "ENST00000907670.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907663.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577722.1",
"strand": false,
"transcript": "ENST00000907663.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1830,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1475,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941034.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1475C>T",
"hgvs_p": "p.Pro492Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611093.1",
"strand": false,
"transcript": "ENST00000941034.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 615,
"aa_ref": "P",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1736,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907669.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577728.1",
"strand": false,
"transcript": "ENST00000907669.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 610,
"aa_ref": "P",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2493,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907680.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Pro484Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577739.1",
"strand": false,
"transcript": "ENST00000907680.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 604,
"aa_ref": "P",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907656.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Pro478Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577715.1",
"strand": false,
"transcript": "ENST00000907656.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 603,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1430,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907682.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1430C>T",
"hgvs_p": "p.Pro477Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577741.1",
"strand": false,
"transcript": "ENST00000907682.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 592,
"aa_ref": "P",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907658.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Pro466Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577717.1",
"strand": false,
"transcript": "ENST00000907658.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907678.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Pro434Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577737.1",
"strand": false,
"transcript": "ENST00000907678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1799,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001099781.2",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093251.1",
"strand": false,
"transcript": "NM_001099781.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907655.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577714.1",
"strand": false,
"transcript": "ENST00000907655.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000907659.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1379C>T",
"hgvs_p": "p.Pro460Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577718.1",
"strand": false,
"transcript": "ENST00000907659.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941028.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1286C>T",
"hgvs_p": "p.Pro429Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611087.1",
"strand": false,
"transcript": "ENST00000941028.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 586,
"aa_ref": "P",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941038.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1382C>T",
"hgvs_p": "p.Pro461Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611097.1",
"strand": false,
"transcript": "ENST00000941038.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 584,
"aa_ref": "P",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 1729,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000941040.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Pro458Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611099.1",
"strand": false,
"transcript": "ENST00000941040.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 1727,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000907676.1",
"gene_hgnc_id": 4260,
"gene_symbol": "GGT5",
"hgvs_c": "c.1370C>T",
"hgvs_p": "p.Pro457Leu",
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{
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],
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}
]
}