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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: X-53551420-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53551420&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HUWE1",
"hgnc_id": 30892,
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"inheritance_mode": "XL,AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_031407.7",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9974,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.47,
"chr": "X",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " Turner type, X-linked syndromic,Intellectual disability,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9513832330703735,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "R",
"aa_start": 2981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14731,
"cdna_start": 9335,
"cds_end": null,
"cds_length": 13125,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_031407.7",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262854.11",
"protein_coding": true,
"protein_id": "NP_113584.3",
"strand": false,
"transcript": "NM_031407.7",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "R",
"aa_start": 2981,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14731,
"cdna_start": 9335,
"cds_end": null,
"cds_length": 13125,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "ENST00000262854.11",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031407.7",
"protein_coding": true,
"protein_id": "ENSP00000262854.6",
"strand": false,
"transcript": "ENST00000262854.11",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "R",
"aa_start": 2981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14628,
"cdna_start": 9232,
"cds_end": null,
"cds_length": 13125,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001441057.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427986.1",
"strand": false,
"transcript": "NM_001441057.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4374,
"aa_ref": "R",
"aa_start": 2981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14796,
"cdna_start": 9400,
"cds_end": null,
"cds_length": 13125,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000342160.7",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340648.3",
"strand": false,
"transcript": "ENST00000342160.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "R",
"aa_start": 2980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14728,
"cdna_start": 9332,
"cds_end": null,
"cds_length": 13122,
"cds_start": 8939,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001441051.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427980.1",
"strand": false,
"transcript": "NM_001441051.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4373,
"aa_ref": "R",
"aa_start": 2980,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14760,
"cdna_start": 9364,
"cds_end": null,
"cds_length": 13122,
"cds_start": 8939,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001441056.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427985.1",
"strand": false,
"transcript": "NM_001441056.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4366,
"aa_ref": "R",
"aa_start": 2988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14707,
"cdna_start": 9356,
"cds_end": null,
"cds_length": 13101,
"cds_start": 8963,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001441050.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8963G>A",
"hgvs_p": "p.Arg2988His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427979.1",
"strand": false,
"transcript": "NM_001441050.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4366,
"aa_ref": "R",
"aa_start": 2988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14739,
"cdna_start": 9388,
"cds_end": null,
"cds_length": 13101,
"cds_start": 8963,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001441055.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8963G>A",
"hgvs_p": "p.Arg2988His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427984.1",
"strand": false,
"transcript": "NM_001441055.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4365,
"aa_ref": "R",
"aa_start": 2972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14311,
"cdna_start": 8915,
"cds_end": null,
"cds_length": 13098,
"cds_start": 8915,
"consequences": [
"missense_variant"
],
"exon_count": 81,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "ENST00000612484.4",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8915G>A",
"hgvs_p": "p.Arg2972His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479451.1",
"strand": false,
"transcript": "ENST00000612484.4",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 4359,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14686,
"cdna_start": 9335,
"cds_end": null,
"cds_length": 13080,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001441049.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427978.1",
"strand": false,
"transcript": "NM_001441049.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 4359,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14718,
"cdna_start": 9367,
"cds_end": null,
"cds_length": 13080,
"cds_start": 8942,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001441054.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8942G>A",
"hgvs_p": "p.Arg2981His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427983.1",
"strand": false,
"transcript": "NM_001441054.1",
"transcript_support_level": null
},
{
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"aa_length": 4358,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14683,
"cdna_start": 9332,
"cds_end": null,
"cds_length": 13077,
"cds_start": 8939,
"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001441048.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427977.1",
"strand": false,
"transcript": "NM_001441048.1",
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},
{
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"cdna_start": 9364,
"cds_end": null,
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"consequences": [
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],
"exon_count": 83,
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"exon_rank_end": null,
"feature": "NM_001441053.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427982.1",
"strand": false,
"transcript": "NM_001441053.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 9229,
"cds_end": null,
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"cds_start": 8939,
"consequences": [
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],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "NM_001441058.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427987.1",
"strand": false,
"transcript": "NM_001441058.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 13593,
"cdna_start": 9343,
"cds_end": null,
"cds_length": 13074,
"cds_start": 8939,
"consequences": [
"missense_variant"
],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000913494.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583553.1",
"strand": false,
"transcript": "ENST00000913494.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 14522,
"cdna_start": 9384,
"cds_end": null,
"cds_length": 12909,
"cds_start": 8939,
"consequences": [
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],
"exon_count": 83,
"exon_rank": 63,
"exon_rank_end": null,
"feature": "ENST00000704099.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8939G>A",
"hgvs_p": "p.Arg2980His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515693.1",
"strand": false,
"transcript": "ENST00000704099.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 8965,
"cds_end": null,
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"consequences": [
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],
"exon_count": 80,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "NM_001441052.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8540G>A",
"hgvs_p": "p.Arg2847His",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427981.1",
"strand": false,
"transcript": "NM_001441052.1",
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},
{
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"cdna_start": 8980,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 80,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000913493.1",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.8540G>A",
"hgvs_p": "p.Arg2847His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583552.1",
"strand": false,
"transcript": "ENST00000913493.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 9637,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 84,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "XM_017029198.3",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.9212G>A",
"hgvs_p": "p.Arg3071His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884687.1",
"strand": false,
"transcript": "XM_017029198.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
"aa_start": 3071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15001,
"cdna_start": 9605,
"cds_end": null,
"cds_length": 13395,
"cds_start": 9212,
"consequences": [
"missense_variant"
],
"exon_count": 85,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "XM_017029199.2",
"gene_hgnc_id": 30892,
"gene_symbol": "HUWE1",
"hgvs_c": "c.9212G>A",
"hgvs_p": "p.Arg3071His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884688.1",
"strand": false,
"transcript": "XM_017029199.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 3071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15105,
"cdna_start": 9709,
"cds_end": null,
"cds_length": 13395,
"cds_start": 9212,
"consequences": [
"missense_variant"
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