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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: 13-98805032-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98805032&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK9",
"hgnc_id": 14132,
"hgvs_c": "c.5797G>A",
"hgvs_p": "p.Glu1933Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001366681.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 536,
"alphamissense_prediction": null,
"alphamissense_score": 0.4012,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"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": 0.07919919490814209,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "E",
"aa_start": 1898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 5847,
"cds_end": null,
"cds_length": 6279,
"cds_start": 5692,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001366683.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5692G>A",
"hgvs_p": "p.Glu1898Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682017.1",
"protein_coding": true,
"protein_id": "NP_001353612.1",
"strand": false,
"transcript": "NM_001366683.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "E",
"aa_start": 1898,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 5847,
"cds_end": null,
"cds_length": 6279,
"cds_start": 5692,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000682017.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5692G>A",
"hgvs_p": "p.Glu1898Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366683.2",
"protein_coding": true,
"protein_id": "ENSP00000507034.1",
"strand": false,
"transcript": "ENST00000682017.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2127,
"aa_ref": "E",
"aa_start": 1933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7736,
"cdna_start": 5952,
"cds_end": null,
"cds_length": 6384,
"cds_start": 5797,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "NM_001366681.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5797G>A",
"hgvs_p": "p.Glu1933Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353610.1",
"strand": false,
"transcript": "NM_001366681.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2115,
"aa_ref": "E",
"aa_start": 1921,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7700,
"cdna_start": 5916,
"cds_end": null,
"cds_length": 6348,
"cds_start": 5761,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001366684.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5761G>A",
"hgvs_p": "p.Glu1921Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353613.1",
"strand": false,
"transcript": "NM_001366684.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2104,
"aa_ref": "E",
"aa_start": 1910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7667,
"cdna_start": 5883,
"cds_end": null,
"cds_length": 6315,
"cds_start": 5728,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001366682.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5728G>A",
"hgvs_p": "p.Glu1910Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353611.1",
"strand": false,
"transcript": "NM_001366682.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "E",
"aa_start": 1898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 5854,
"cds_end": null,
"cds_length": 6279,
"cds_start": 5692,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000903387.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5692G>A",
"hgvs_p": "p.Glu1898Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573446.1",
"strand": false,
"transcript": "ENST00000903387.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2085,
"aa_ref": "E",
"aa_start": 1891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7632,
"cdna_start": 5848,
"cds_end": null,
"cds_length": 6258,
"cds_start": 5671,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001366677.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5671G>A",
"hgvs_p": "p.Glu1891Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353606.1",
"strand": false,
"transcript": "NM_001366677.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2081,
"aa_ref": "E",
"aa_start": 1887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7887,
"cdna_start": 6103,
"cds_end": null,
"cds_length": 6246,
"cds_start": 5659,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000448493.7",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5659G>A",
"hgvs_p": "p.Glu1887Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401958.4",
"strand": false,
"transcript": "ENST00000448493.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2080,
"aa_ref": "E",
"aa_start": 1924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7739,
"cdna_start": 5947,
"cds_end": null,
"cds_length": 6243,
"cds_start": 5770,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "NM_001366678.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5770G>A",
"hgvs_p": "p.Glu1924Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353607.1",
"strand": false,
"transcript": "NM_001366678.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "E",
"aa_start": 1922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8000,
"cdna_start": 6208,
"cds_end": null,
"cds_length": 6237,
"cds_start": 5764,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "ENST00000703211.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5764G>A",
"hgvs_p": "p.Glu1922Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515238.1",
"strand": false,
"transcript": "ENST00000703211.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2073,
"aa_ref": "E",
"aa_start": 1879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7574,
"cdna_start": 5790,
"cds_end": null,
"cds_length": 6222,
"cds_start": 5635,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001366679.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5635G>A",
"hgvs_p": "p.Glu1879Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353608.1",
"strand": false,
"transcript": "NM_001366679.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2073,
"aa_ref": "E",
"aa_start": 1879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7479,
"cdna_start": 5754,
"cds_end": null,
"cds_length": 6222,
"cds_start": 5635,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000903390.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5635G>A",
"hgvs_p": "p.Glu1879Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573449.1",
"strand": false,
"transcript": "ENST00000903390.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "E",
"aa_start": 1913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7872,
"cdna_start": 6080,
"cds_end": null,
"cds_length": 6210,
"cds_start": 5737,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "NM_015296.3",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5737G>A",
"hgvs_p": "p.Glu1913Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056111.1",
"strand": false,
"transcript": "NM_015296.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2069,
"aa_ref": "E",
"aa_start": 1913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7523,
"cdna_start": 5792,
"cds_end": null,
"cds_length": 6210,
"cds_start": 5737,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000652315.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5737G>A",
"hgvs_p": "p.Glu1913Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498761.1",
"strand": false,
"transcript": "ENST00000652315.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "E",
"aa_start": 1912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7681,
"cdna_start": 5889,
"cds_end": null,
"cds_length": 6207,
"cds_start": 5734,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "NM_001130048.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5734G>A",
"hgvs_p": "p.Glu1912Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123520.1",
"strand": false,
"transcript": "NM_001130048.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "E",
"aa_start": 1912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7549,
"cdna_start": 5815,
"cds_end": null,
"cds_length": 6207,
"cds_start": 5734,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000376460.5",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5734G>A",
"hgvs_p": "p.Glu1912Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365643.1",
"strand": false,
"transcript": "ENST00000376460.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2061,
"aa_ref": "E",
"aa_start": 1867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 5754,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5599,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001366680.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5599G>A",
"hgvs_p": "p.Glu1867Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353609.1",
"strand": false,
"transcript": "NM_001366680.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 2061,
"aa_ref": "E",
"aa_start": 1867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7455,
"cdna_start": 5745,
"cds_end": null,
"cds_length": 6186,
"cds_start": 5599,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000449796.6",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5599G>A",
"hgvs_p": "p.Glu1867Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403528.2",
"strand": false,
"transcript": "ENST00000449796.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2057,
"aa_ref": "E",
"aa_start": 1901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7670,
"cdna_start": 5878,
"cds_end": null,
"cds_length": 6174,
"cds_start": 5701,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "NM_001366676.2",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5701G>A",
"hgvs_p": "p.Glu1901Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353605.1",
"strand": false,
"transcript": "NM_001366676.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2055,
"aa_ref": "E",
"aa_start": 1899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7619,
"cdna_start": 5827,
"cds_end": null,
"cds_length": 6168,
"cds_start": 5695,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000703210.1",
"gene_hgnc_id": 14132,
"gene_symbol": "DOCK9",
"hgvs_c": "c.5695G>A",
"hgvs_p": "p.Glu1899Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515237.1",
"strand": false,
"transcript": "ENST00000703210.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2046,
"aa_ref": "E",
"aa_start": 1890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7803,
"cdna_start": 6011,
"cds_end": null,
"cds_length": 6141,
"cds_start": 5668,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "NM_001318849.2",
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