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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: 13-99606745-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=99606745&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLYBL",
"hgnc_id": 18355,
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_206808.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 168,
"alphamissense_prediction": null,
"alphamissense_score": 0.2888,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "13",
"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": 0.01944833993911743,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_206808.5",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000339105.9",
"protein_coding": true,
"protein_id": "NP_996531.1",
"strand": true,
"transcript": "NM_206808.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1181,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000339105.9",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_206808.5",
"protein_coding": true,
"protein_id": "ENSP00000342991.4",
"strand": true,
"transcript": "ENST00000339105.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 383,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 54,
"cds_end": null,
"cds_length": 1152,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933047.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603106.1",
"strand": true,
"transcript": "ENST00000933047.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 351,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1210,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1056,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898531.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568590.1",
"strand": true,
"transcript": "ENST00000898531.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 351,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2075,
"cdna_start": 77,
"cds_end": null,
"cds_length": 1056,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898532.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568591.1",
"strand": true,
"transcript": "ENST00000898532.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1232,
"cdna_start": 87,
"cds_end": null,
"cds_length": 1044,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898526.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568585.1",
"strand": true,
"transcript": "ENST00000898526.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 89,
"cds_end": null,
"cds_length": 1044,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898527.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568586.1",
"strand": true,
"transcript": "ENST00000898527.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 81,
"cds_end": null,
"cds_length": 1044,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933045.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603104.1",
"strand": true,
"transcript": "ENST00000933045.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1227,
"cdna_start": 61,
"cds_end": null,
"cds_length": 1044,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000933046.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603105.1",
"strand": true,
"transcript": "ENST00000933046.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393356.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380285.1",
"strand": true,
"transcript": "NM_001393356.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393357.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380286.1",
"strand": true,
"transcript": "NM_001393357.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 56,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393358.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380287.1",
"strand": true,
"transcript": "NM_001393358.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1201,
"cdna_start": 56,
"cds_end": null,
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"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393359.2",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380288.1",
"strand": true,
"transcript": "NM_001393359.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6771,
"cdna_start": 77,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000376355.7",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365533.4",
"strand": true,
"transcript": "ENST00000376355.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 80,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898520.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568579.1",
"strand": true,
"transcript": "ENST00000898520.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 105,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898521.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568580.1",
"strand": true,
"transcript": "ENST00000898521.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1395,
"cdna_start": 98,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898523.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568582.1",
"strand": true,
"transcript": "ENST00000898523.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1347,
"cdna_start": 87,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898524.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568583.1",
"strand": true,
"transcript": "ENST00000898524.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 83,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000898528.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568587.1",
"strand": true,
"transcript": "ENST00000898528.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 340,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 79,
"cds_end": null,
"cds_length": 1023,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943589.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613648.1",
"strand": true,
"transcript": "ENST00000943589.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 317,
"aa_ref": "A",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1114,
"cdna_start": 59,
"cds_end": null,
"cds_length": 954,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000943590.1",
"gene_hgnc_id": 18355,
"gene_symbol": "CLYBL",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Ala17Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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