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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: 22-28695187-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28695187&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CHEK2",
"hgnc_id": 16627,
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Gln482*",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001005735.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "22",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007194.4",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000404276.6",
"protein_coding": true,
"protein_id": "NP_009125.1",
"strand": false,
"transcript": "NM_007194.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000404276.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007194.4",
"protein_coding": true,
"protein_id": "ENSP00000385747.1",
"strand": false,
"transcript": "ENST00000404276.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 586,
"aa_ref": "Q",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1444,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000382580.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Gln482*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372023.2",
"strand": false,
"transcript": "ENST00000382580.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 476,
"aa_ref": "Q",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1591,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1431,
"cds_start": 1114,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000402731.6",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Gln372*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384835.2",
"strand": false,
"transcript": "ENST00000402731.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 452,
"aa_ref": "Q",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1359,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1042,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000403642.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Gln348*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384919.1",
"strand": false,
"transcript": "ENST00000403642.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416671.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*805C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402225.1",
"strand": false,
"transcript": "ENST00000416671.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000416671.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "n.*805C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402225.1",
"strand": false,
"transcript": "ENST00000416671.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 586,
"aa_ref": "Q",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1444,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001005735.3",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1444C>T",
"hgvs_p": "p.Gln482*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005735.1",
"strand": false,
"transcript": "NM_001005735.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 574,
"aa_ref": "Q",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1408,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001438293.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Gln470*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425222.1",
"strand": false,
"transcript": "NM_001438293.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 557,
"aa_ref": "Q",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1357,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438294.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Gln453*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425223.1",
"strand": false,
"transcript": "NM_001438294.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 546,
"aa_ref": "Q",
"aa_start": 442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1324,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928685.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1324C>T",
"hgvs_p": "p.Gln442*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598744.1",
"strand": false,
"transcript": "ENST00000928685.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 545,
"aa_ref": "Q",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1321,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001438295.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1321C>T",
"hgvs_p": "p.Gln441*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425224.1",
"strand": false,
"transcript": "NM_001438295.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000405598.5",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386087.1",
"strand": false,
"transcript": "ENST00000405598.5",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000650281.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497000.1",
"strand": false,
"transcript": "ENST00000650281.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2522,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899937.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569996.1",
"strand": false,
"transcript": "ENST00000899937.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928690.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598749.1",
"strand": false,
"transcript": "ENST00000928690.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000928691.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598750.1",
"strand": false,
"transcript": "ENST00000928691.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000928694.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598753.1",
"strand": false,
"transcript": "ENST00000928694.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 543,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954618.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Gln439*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624677.1",
"strand": false,
"transcript": "ENST00000954618.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 541,
"aa_ref": "Q",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1309,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928683.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598742.1",
"strand": false,
"transcript": "ENST00000928683.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 539,
"aa_ref": "Q",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1315,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928693.1",
"gene_hgnc_id": 16627,
"gene_symbol": "CHEK2",
"hgvs_c": "c.1315C>T",
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