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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: 1-160237145-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160237145&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP5_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCAF8",
"hgnc_id": 24891,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015726.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258465",
"hgnc_id": null,
"hgvs_c": "n.*1533C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000556710.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP5_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.6266,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "1",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Giant axonal neuropathy 2,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5898981094360352,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015726.4",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368074.6",
"protein_coding": true,
"protein_id": "NP_056541.2",
"strand": false,
"transcript": "NM_015726.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368074.6",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015726.4",
"protein_coding": true,
"protein_id": "ENSP00000357053.1",
"strand": false,
"transcript": "ENST00000368074.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368073.7",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357052.3",
"strand": false,
"transcript": "ENST00000368073.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": 1240,
"cds_end": null,
"cds_length": 1836,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961183.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631242.1",
"strand": false,
"transcript": "ENST00000961183.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1833,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870543.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540602.1",
"strand": false,
"transcript": "ENST00000870543.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1833,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961165.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631224.1",
"strand": false,
"transcript": "ENST00000961165.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 601,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1806,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961172.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631231.1",
"strand": false,
"transcript": "ENST00000961172.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 1250,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000326837.6",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000318227.2",
"strand": false,
"transcript": "ENST00000326837.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870521.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540580.1",
"strand": false,
"transcript": "ENST00000870521.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870522.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540581.1",
"strand": false,
"transcript": "ENST00000870522.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870523.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540582.1",
"strand": false,
"transcript": "ENST00000870523.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870524.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540583.1",
"strand": false,
"transcript": "ENST00000870524.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870525.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540584.1",
"strand": false,
"transcript": "ENST00000870525.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 597,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870526.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540585.1",
"strand": false,
"transcript": "ENST00000870526.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870527.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540586.1",
"strand": false,
"transcript": "ENST00000870527.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870528.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540587.1",
"strand": false,
"transcript": "ENST00000870528.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870529.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540588.1",
"strand": false,
"transcript": "ENST00000870529.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4002,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870530.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540589.1",
"strand": false,
"transcript": "ENST00000870530.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870531.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540590.1",
"strand": false,
"transcript": "ENST00000870531.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1794,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000870533.1",
"gene_hgnc_id": 24891,
"gene_symbol": "DCAF8",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540592.1",
"strand": false,
"transcript": "ENST00000870533.1",
"transcript_support_level": null
},
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],
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]
}