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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-48686928-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48686928&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WAS",
"hgnc_id": 12731,
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"inheritance_mode": "XL,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001438877.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000232828",
"hgnc_id": null,
"hgvs_c": "n.821+12096G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "ENST00000746890.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5538,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Thrombocytopenia 1",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8887101411819458,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000377.3",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376701.5",
"protein_coding": true,
"protein_id": "NP_000368.1",
"strand": true,
"transcript": "NM_000377.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000376701.5",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000377.3",
"protein_coding": true,
"protein_id": "ENSP00000365891.4",
"strand": true,
"transcript": "ENST00000376701.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 590,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1773,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438877.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425806.1",
"strand": true,
"transcript": "NM_001438877.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 590,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1773,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698635.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513850.1",
"strand": true,
"transcript": "ENST00000698635.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 538,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1617,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438878.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425807.1",
"strand": true,
"transcript": "NM_001438878.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 532,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1599,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000698626.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513845.1",
"strand": true,
"transcript": "ENST00000698626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438879.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425808.1",
"strand": true,
"transcript": "NM_001438879.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1957,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698625.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513844.1",
"strand": true,
"transcript": "ENST00000698625.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906191.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576250.1",
"strand": true,
"transcript": "ENST00000906191.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 990,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906192.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576251.1",
"strand": true,
"transcript": "ENST00000906192.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906193.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576252.1",
"strand": true,
"transcript": "ENST00000906193.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906194.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576253.1",
"strand": true,
"transcript": "ENST00000906194.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 1132,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906195.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576254.1",
"strand": true,
"transcript": "ENST00000906195.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906196.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576255.1",
"strand": true,
"transcript": "ENST00000906196.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1509,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906197.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576256.1",
"strand": true,
"transcript": "ENST00000906197.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 473,
"aa_ref": "A",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1422,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906200.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ala207Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576259.1",
"strand": true,
"transcript": "ENST00000906200.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 455,
"aa_ref": "A",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1368,
"cds_start": 566,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906199.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.566C>G",
"hgvs_p": "p.Ala189Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576258.1",
"strand": true,
"transcript": "ENST00000906199.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 450,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1353,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438876.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425805.1",
"strand": true,
"transcript": "NM_001438876.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 450,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1353,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906198.1",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576257.1",
"strand": true,
"transcript": "ENST00000906198.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 590,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 854,
"cds_end": null,
"cds_length": 1773,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017029786.2",
"gene_hgnc_id": 12731,
"gene_symbol": "WAS",
"hgvs_c": "c.707C>G",
"hgvs_p": "p.Ala236Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885275.1",
"strand": true,
"transcript": "XM_017029786.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 590,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1773,
"cds_start": 707,
"consequences": [
"missense_variant"
],
"exon_count": 13,
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}