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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: 17-7701534-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7701534&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "WRAP53",
"hgnc_id": 25522,
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"inheritance_mode": "AR,AD,SD,Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_018081.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 1063,
"alphamissense_prediction": null,
"alphamissense_score": 0.0882,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "17",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " autosomal recessive 3,Dyskeratosis congenita,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5099999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143992.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396463.7",
"protein_coding": true,
"protein_id": "NP_001137464.1",
"strand": true,
"transcript": "NM_001143992.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000396463.7",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001143992.2",
"protein_coding": true,
"protein_id": "ENSP00000379727.3",
"strand": true,
"transcript": "ENST00000396463.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000316024.9",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324203.5",
"strand": true,
"transcript": "ENST00000316024.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000431639.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397219.2",
"strand": true,
"transcript": "ENST00000431639.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000457584.6",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411061.2",
"strand": true,
"transcript": "ENST00000457584.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1548,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000534050.5",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Arg236Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434999.1",
"strand": true,
"transcript": "ENST00000534050.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1812,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932535.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602594.1",
"strand": true,
"transcript": "ENST00000932535.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 554,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1665,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868854.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Arg275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538913.1",
"strand": true,
"transcript": "ENST00000868854.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 554,
"aa_ref": "R",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 1665,
"cds_start": 825,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932533.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Arg275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602592.1",
"strand": true,
"transcript": "ENST00000932533.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 962,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143990.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137462.1",
"strand": true,
"transcript": "NM_001143990.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001143991.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137463.1",
"strand": true,
"transcript": "NM_001143991.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1647,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018081.2",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060551.2",
"strand": true,
"transcript": "NM_018081.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1596,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932534.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602593.1",
"strand": true,
"transcript": "ENST00000932534.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1590,
"cds_start": 750,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868853.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Arg250Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538912.1",
"strand": true,
"transcript": "ENST00000868853.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1548,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964568.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Arg236Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634627.1",
"strand": true,
"transcript": "ENST00000964568.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 503,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1512,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698746.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513908.1",
"strand": true,
"transcript": "ENST00000698746.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 469,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1410,
"cds_start": 807,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698742.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.807C>T",
"hgvs_p": "p.Arg269Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513904.1",
"strand": true,
"transcript": "ENST00000698742.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 399,
"cds_end": null,
"cds_length": 1239,
"cds_start": 399,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698747.1",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Arg133Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513909.1",
"strand": true,
"transcript": "ENST00000698747.1",
"transcript_support_level": null
},
{
"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": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000467699.5",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "n.925C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467699.5",
"transcript_support_level": 5
},
{
"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": 2657,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000498311.5",
"gene_hgnc_id": 25522,
"gene_symbol": "WRAP53",
"hgvs_c": "n.839C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432991.1",
"strand": true,
"transcript": "ENST00000498311.5",
"transcript_support_level": 2
},
{
"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": 2232,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000698743.1",
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}