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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: 14-74907460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=74907460&ref=C&alt=T&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": "RPS6KL1",
"hgnc_id": 20222,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001370252.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.0715,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "14",
"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": 0.05309268832206726,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_031464.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000557413.6",
"protein_coding": true,
"protein_id": "NP_113652.2",
"strand": false,
"transcript": "NM_031464.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5322,
"cdna_start": 2123,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000557413.6",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031464.5",
"protein_coding": true,
"protein_id": "ENSP00000450567.1",
"strand": false,
"transcript": "ENST00000557413.6",
"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": 2457,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000555009.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "n.1421G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450660.1",
"strand": false,
"transcript": "ENST00000555009.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001370252.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357181.1",
"strand": false,
"transcript": "NM_001370252.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 521,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 2151,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1562,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000961459.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Arg521His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631518.1",
"strand": false,
"transcript": "ENST00000961459.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000354625.6",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346644.3",
"strand": false,
"transcript": "ENST00000354625.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555647.5",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452027.1",
"strand": false,
"transcript": "ENST00000555647.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000906485.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576544.1",
"strand": false,
"transcript": "ENST00000906485.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000906486.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576545.1",
"strand": false,
"transcript": "ENST00000906486.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3691,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000920813.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590872.1",
"strand": false,
"transcript": "ENST00000920813.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961448.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631507.1",
"strand": false,
"transcript": "ENST00000961448.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000961458.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631517.1",
"strand": false,
"transcript": "ENST00000961458.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2078,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000961452.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631511.1",
"strand": false,
"transcript": "ENST00000961452.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 534,
"aa_ref": "R",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3495,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1469,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000961457.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631516.1",
"strand": false,
"transcript": "ENST00000961457.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1466,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961451.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1466G>A",
"hgvs_p": "p.Arg489His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631510.1",
"strand": false,
"transcript": "ENST00000961451.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 519,
"aa_ref": "R",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 2026,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920816.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590875.1",
"strand": false,
"transcript": "ENST00000920816.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3532,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920814.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590873.1",
"strand": false,
"transcript": "ENST00000920814.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000920815.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590874.1",
"strand": false,
"transcript": "ENST00000920815.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961450.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631509.1",
"strand": false,
"transcript": "ENST00000961450.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000961453.1",
"gene_hgnc_id": 20222,
"gene_symbol": "RPS6KL1",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631512.1",
"strand": false,
"transcript": "ENST00000961453.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000961461.1",
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]
}