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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: 16-67658928-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67658928&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "ACD",
"hgnc_id": 25070,
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001082486.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 51,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal dominant 6,Dyskeratosis congenita,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 458,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1511,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1377,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001082486.2",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000620761.6",
"protein_coding": true,
"protein_id": "NP_001075955.2",
"strand": false,
"transcript": "NM_001082486.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 458,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1511,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1377,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000620761.6",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001082486.2",
"protein_coding": true,
"protein_id": "ENSP00000478084.1",
"strand": false,
"transcript": "ENST00000620761.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 464,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1395,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695659.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512089.1",
"strand": false,
"transcript": "ENST00000695659.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1368,
"cds_start": 636,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_022914.3",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Thr212Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075065.3",
"strand": false,
"transcript": "NM_022914.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 455,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1368,
"cds_start": 636,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000219251.13",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Thr212Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000219251.8",
"strand": false,
"transcript": "ENST00000219251.13",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 454,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 722,
"cds_end": null,
"cds_length": 1365,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000938871.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608930.1",
"strand": false,
"transcript": "ENST00000938871.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 452,
"aa_ref": "T",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1359,
"cds_start": 627,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695648.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.627G>A",
"hgvs_p": "p.Thr209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512081.1",
"strand": false,
"transcript": "ENST00000695648.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 451,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1356,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695734.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512127.1",
"strand": false,
"transcript": "ENST00000695734.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 449,
"aa_ref": "T",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1350,
"cds_start": 618,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957226.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.618G>A",
"hgvs_p": "p.Thr206Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627285.1",
"strand": false,
"transcript": "ENST00000957226.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1338,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896207.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566266.1",
"strand": false,
"transcript": "ENST00000896207.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 640,
"cds_end": null,
"cds_length": 1332,
"cds_start": 600,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000695694.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.600G>A",
"hgvs_p": "p.Thr200Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512105.1",
"strand": false,
"transcript": "ENST00000695694.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 442,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1329,
"cds_start": 636,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000602320.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Thr212Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473679.2",
"strand": false,
"transcript": "ENST00000602320.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 429,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1290,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001410884.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397813.1",
"strand": false,
"transcript": "NM_001410884.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 429,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1290,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695697.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512106.1",
"strand": false,
"transcript": "ENST00000695697.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1281,
"cds_start": 636,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957225.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.636G>A",
"hgvs_p": "p.Thr212Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627284.1",
"strand": false,
"transcript": "ENST00000957225.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 423,
"aa_ref": "T",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1272,
"cds_start": 627,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896208.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.627G>A",
"hgvs_p": "p.Thr209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566267.1",
"strand": false,
"transcript": "ENST00000896208.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 416,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1392,
"cdna_start": 715,
"cds_end": null,
"cds_length": 1251,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957224.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627283.1",
"strand": false,
"transcript": "ENST00000957224.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 399,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": 685,
"cds_end": null,
"cds_length": 1200,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695658.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512088.1",
"strand": false,
"transcript": "ENST00000695658.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 334,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1005,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000602382.6",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473313.2",
"strand": false,
"transcript": "ENST00000602382.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 305,
"aa_ref": "T",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 685,
"cds_end": null,
"cds_length": 918,
"cds_start": 645,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695733.1",
"gene_hgnc_id": 25070,
"gene_symbol": "ACD",
"hgvs_c": "c.645G>A",
"hgvs_p": "p.Thr215Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512126.1",
"strand": false,
"transcript": "ENST00000695733.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 215,
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