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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: 15-50481710-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50481710&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP8",
"hgnc_id": 12631,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_005154.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1301,
"alphamissense_prediction": null,
"alphamissense_score": 0.0863,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "Hereditary spastic paraplegia,USP8-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0041169822216033936,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18865,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005154.5",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307179.9",
"protein_coding": true,
"protein_id": "NP_005145.3",
"strand": true,
"transcript": "NM_005154.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 18865,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000307179.9",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005154.5",
"protein_coding": true,
"protein_id": "ENSP00000302239.4",
"strand": true,
"transcript": "ENST00000307179.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19026,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396444.7",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379721.3",
"strand": true,
"transcript": "ENST00000396444.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 3483,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956759.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626818.1",
"strand": true,
"transcript": "ENST00000956759.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1131,
"aa_ref": "R",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 3396,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956763.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Arg525Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626822.1",
"strand": true,
"transcript": "ENST00000956763.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19005,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001128610.3",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122082.1",
"strand": true,
"transcript": "NM_001128610.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 1636,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919051.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589110.1",
"strand": true,
"transcript": "ENST00000919051.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "R",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 3357,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000919052.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589111.1",
"strand": true,
"transcript": "ENST00000919052.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1117,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 3354,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919048.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589107.1",
"strand": true,
"transcript": "ENST00000919048.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1117,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 3354,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919050.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589109.1",
"strand": true,
"transcript": "ENST00000919050.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 3276,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000882495.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552554.1",
"strand": true,
"transcript": "ENST00000882495.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1088,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4167,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 3267,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919049.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589108.1",
"strand": true,
"transcript": "ENST00000919049.1",
"transcript_support_level": null
},
{
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"aa_length": 1088,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 3267,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000956762.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626821.1",
"strand": true,
"transcript": "ENST00000956762.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 3126,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000919053.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589112.1",
"strand": true,
"transcript": "ENST00000919053.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1041,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 3126,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956760.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626819.1",
"strand": true,
"transcript": "ENST00000956760.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "R",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5794,
"cdna_start": 1676,
"cds_end": null,
"cds_length": 3108,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000956757.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626816.1",
"strand": true,
"transcript": "ENST00000956757.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18547,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001283049.2",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269978.1",
"strand": true,
"transcript": "NM_001283049.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000425032.7",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412682.3",
"strand": true,
"transcript": "ENST00000425032.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 878,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 909,
"cds_end": null,
"cds_length": 2637,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882496.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552555.1",
"strand": true,
"transcript": "ENST00000882496.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 894,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": null,
"cds_end": null,
"cds_length": 2685,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956758.1",
"gene_hgnc_id": 12631,
"gene_symbol": "USP8",
"hgvs_c": "c.1218+4211G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626817.1",
"strand": true,
"transcript": "ENST00000956758.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 894,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": null,
"cds_end": null,
"cds_length": 2685,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956761.1",
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