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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: 10-126990483-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=126990483&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK1",
"hgnc_id": 2987,
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001377543.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000223528",
"hgnc_id": 58348,
"hgvs_c": "n.216-2038A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000627944.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8716,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7831811904907227,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1886,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6840,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5661,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001290223.2",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000623213.2",
"protein_coding": true,
"protein_id": "NP_001277152.2",
"strand": true,
"transcript": "NM_001290223.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1886,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6840,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5661,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000623213.2",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001290223.2",
"protein_coding": true,
"protein_id": "ENSP00000485033.1",
"strand": true,
"transcript": "ENST00000623213.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1865,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6797,
"cdna_start": 462,
"cds_end": null,
"cds_length": 5598,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000280333.9",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000280333.6",
"strand": true,
"transcript": "ENST00000280333.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1926,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6939,
"cdna_start": 425,
"cds_end": null,
"cds_length": 5781,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000939683.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609742.1",
"strand": true,
"transcript": "ENST00000939683.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1919,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6939,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5760,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377543.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364472.1",
"strand": true,
"transcript": "NM_001377543.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1882,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6807,
"cdna_start": 428,
"cds_end": null,
"cds_length": 5649,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961940.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631999.1",
"strand": true,
"transcript": "ENST00000961940.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1877,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6813,
"cdna_start": 479,
"cds_end": null,
"cds_length": 5634,
"cds_start": 389,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001377544.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.389T>C",
"hgvs_p": "p.Val130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364473.1",
"strand": true,
"transcript": "NM_001377544.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1865,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6777,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5598,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001380.5",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371.2",
"strand": true,
"transcript": "NM_001380.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1846,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6720,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5541,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377546.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364475.1",
"strand": true,
"transcript": "NM_001377546.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1844,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6714,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5535,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377547.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364476.1",
"strand": true,
"transcript": "NM_001377547.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1837,
"aa_ref": "V",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6693,
"cdna_start": 359,
"cds_end": null,
"cds_length": 5514,
"cds_start": 269,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001377548.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.269T>C",
"hgvs_p": "p.Val90Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364477.1",
"strand": true,
"transcript": "NM_001377548.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1832,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5499,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377550.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364479.1",
"strand": true,
"transcript": "NM_001377550.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 429,
"cds_end": null,
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"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871522.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541581.1",
"strand": true,
"transcript": "ENST00000871522.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1825,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6657,
"cdna_start": 443,
"cds_end": null,
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"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377553.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364482.1",
"strand": true,
"transcript": "NM_001377553.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 421,
"cds_end": null,
"cds_length": 5478,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000939682.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609741.1",
"strand": true,
"transcript": "ENST00000939682.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6624,
"cdna_start": 443,
"cds_end": null,
"cds_length": 5445,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377554.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364483.1",
"strand": true,
"transcript": "NM_001377554.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"cdna_start": 432,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961939.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631998.1",
"strand": true,
"transcript": "ENST00000961939.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 443,
"cds_end": null,
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"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377556.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364485.1",
"strand": true,
"transcript": "NM_001377556.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 443,
"cds_end": null,
"cds_length": 5391,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377558.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364487.1",
"strand": true,
"transcript": "NM_001377558.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1772,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6472,
"cdna_start": 419,
"cds_end": null,
"cds_length": 5319,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871523.1",
"gene_hgnc_id": 2987,
"gene_symbol": "DOCK1",
"hgvs_c": "c.353T>C",
"hgvs_p": "p.Val118Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541582.1",
"strand": true,
"transcript": "ENST00000871523.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1724,
"aa_ref": "V",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6385,
"cdna_start": 474,
"cds_end": null,
"cds_length": 5175,
"cds_start": 353,
"consequences": [
"missense_variant"
],
"exon_count": 48,
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