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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: 20-24543122-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=24543122&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYNDIG1",
"hgnc_id": 15885,
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_024893.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0654,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "20",
"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": 0.046772897243499756,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 228,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024893.3",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376862.4",
"protein_coding": true,
"protein_id": "NP_079169.1",
"strand": true,
"transcript": "NM_024893.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 228,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000376862.4",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024893.3",
"protein_coding": true,
"protein_id": "ENSP00000366058.3",
"strand": true,
"transcript": "ENST00000376862.4",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001323606.2",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310535.1",
"strand": true,
"transcript": "NM_001323606.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 156,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001323607.2",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310536.1",
"strand": true,
"transcript": "NM_001323607.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892834.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562893.1",
"strand": true,
"transcript": "ENST00000892834.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 281,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892835.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562894.1",
"strand": true,
"transcript": "ENST00000892835.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 274,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892836.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562895.1",
"strand": true,
"transcript": "ENST00000892836.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 611,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892837.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562896.1",
"strand": true,
"transcript": "ENST00000892837.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 308,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000920527.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590586.1",
"strand": true,
"transcript": "ENST00000920527.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 228,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000920529.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590588.1",
"strand": true,
"transcript": "ENST00000920529.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 381,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959355.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629414.1",
"strand": true,
"transcript": "ENST00000959355.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000959356.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629415.1",
"strand": true,
"transcript": "ENST00000959356.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 422,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959357.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629416.1",
"strand": true,
"transcript": "ENST00000959357.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 622,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959358.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629417.1",
"strand": true,
"transcript": "ENST00000959358.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959359.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629418.1",
"strand": true,
"transcript": "ENST00000959359.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959360.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629419.1",
"strand": true,
"transcript": "ENST00000959360.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 395,
"cds_end": null,
"cds_length": 777,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959361.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629420.1",
"strand": true,
"transcript": "ENST00000959361.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 212,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 658,
"cds_end": null,
"cds_length": 639,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000920528.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590587.1",
"strand": true,
"transcript": "ENST00000920528.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 212,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 639,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959354.1",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629413.1",
"strand": true,
"transcript": "ENST00000959354.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 267,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 228,
"cds_end": null,
"cds_length": 804,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529347.4",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527649.1",
"strand": true,
"transcript": "XM_011529347.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 267,
"aa_ref": "S",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 228,
"cds_end": null,
"cds_length": 804,
"cds_start": 25,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011529348.4",
"gene_hgnc_id": 15885,
"gene_symbol": "SYNDIG1",
"hgvs_c": "c.25A>G",
"hgvs_p": "p.Ser9Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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