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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: 17-18329329-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18329329&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SHMT1",
"hgnc_id": 10850,
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_004169.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.9753,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.25,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9849866628646851,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004169.5",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316694.8",
"protein_coding": true,
"protein_id": "NP_004160.3",
"strand": false,
"transcript": "NM_004169.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000316694.8",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004169.5",
"protein_coding": true,
"protein_id": "ENSP00000318868.3",
"strand": false,
"transcript": "ENST00000316694.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000583780.2",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462041.2",
"strand": false,
"transcript": "ENST00000583780.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000354098.7",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1114C>G",
"hgvs_p": "p.Arg372Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318805.3",
"strand": false,
"transcript": "ENST00000354098.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395684.5",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "n.1554C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000395684.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000926103.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1474C>G",
"hgvs_p": "p.Arg492Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596162.1",
"strand": false,
"transcript": "ENST00000926103.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 539,
"aa_ref": "R",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2540,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886390.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1399C>G",
"hgvs_p": "p.Arg467Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556449.1",
"strand": false,
"transcript": "ENST00000886390.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886395.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1282C>G",
"hgvs_p": "p.Arg428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556454.1",
"strand": false,
"transcript": "ENST00000886395.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 500,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1282,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000926101.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1282C>G",
"hgvs_p": "p.Arg428Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596160.1",
"strand": false,
"transcript": "ENST00000926101.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886362.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556421.1",
"strand": false,
"transcript": "ENST00000886362.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886363.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556422.1",
"strand": false,
"transcript": "ENST00000886363.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886368.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556427.1",
"strand": false,
"transcript": "ENST00000886368.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886375.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556434.1",
"strand": false,
"transcript": "ENST00000886375.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886379.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556438.1",
"strand": false,
"transcript": "ENST00000886379.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886381.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556440.1",
"strand": false,
"transcript": "ENST00000886381.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886382.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556441.1",
"strand": false,
"transcript": "ENST00000886382.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886384.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556443.1",
"strand": false,
"transcript": "ENST00000886384.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886391.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556450.1",
"strand": false,
"transcript": "ENST00000886391.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2370,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886392.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556451.1",
"strand": false,
"transcript": "ENST00000886392.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1944,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000886397.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556456.1",
"strand": false,
"transcript": "ENST00000886397.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 483,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000886398.1",
"gene_hgnc_id": 10850,
"gene_symbol": "SHMT1",
"hgvs_c": "c.1231C>G",
"hgvs_p": "p.Arg411Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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