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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-48479062-CAG-GAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48479062&ref=CAG&alt=GAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FTSJ1",
"hgnc_id": 13254,
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001441197.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 592,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012280.4",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348411.3",
"protein_coding": true,
"protein_id": "NP_036412.1",
"strand": true,
"transcript": "NM_012280.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1899,
"cdna_start": 592,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348411.3",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012280.4",
"protein_coding": true,
"protein_id": "ENSP00000326948.2",
"strand": true,
"transcript": "ENST00000348411.3",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 337,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1014,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441197.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428126.1",
"strand": true,
"transcript": "NM_001441197.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 337,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1014,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441198.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428127.1",
"strand": true,
"transcript": "NM_001441198.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 335,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1008,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441199.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428128.1",
"strand": true,
"transcript": "NM_001441199.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 335,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1502,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1008,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441200.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428129.1",
"strand": true,
"transcript": "NM_001441200.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 698,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441195.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428124.1",
"strand": true,
"transcript": "NM_001441195.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 752,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898808.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568867.1",
"strand": true,
"transcript": "ENST00000898808.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 597,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898812.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568871.1",
"strand": true,
"transcript": "ENST00000898812.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 587,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898815.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568874.1",
"strand": true,
"transcript": "ENST00000898815.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 676,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898816.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568875.1",
"strand": true,
"transcript": "ENST00000898816.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 604,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918484.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588543.1",
"strand": true,
"transcript": "ENST00000918484.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 730,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951062.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621121.1",
"strand": true,
"transcript": "ENST00000951062.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1825,
"cdna_start": 592,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951064.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621123.1",
"strand": true,
"transcript": "ENST00000951064.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1856,
"cdna_start": 561,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951065.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621124.1",
"strand": true,
"transcript": "ENST00000951065.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 329,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 664,
"cds_end": null,
"cds_length": 990,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951066.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621125.1",
"strand": true,
"transcript": "ENST00000951066.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 592,
"cds_end": null,
"cds_length": 984,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001441196.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428125.1",
"strand": true,
"transcript": "NM_001441196.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 698,
"cds_end": null,
"cds_length": 984,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_177439.3",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_803188.1",
"strand": true,
"transcript": "NM_177439.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": 736,
"cds_end": null,
"cds_length": 984,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000019019.6",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000019019.2",
"strand": true,
"transcript": "ENST00000019019.6",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 606,
"cds_end": null,
"cds_length": 984,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898817.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568876.1",
"strand": true,
"transcript": "ENST00000898817.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 327,
"aa_ref": "Q",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 588,
"cds_end": null,
"cds_length": 984,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918486.1",
"gene_hgnc_id": 13254,
"gene_symbol": "FTSJ1",
"hgvs_c": "c.307_309delCAGinsGAA",
"hgvs_p": "p.Gln103Glu",
"intron_rank": null,
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