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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: 4-6301848-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=6301848&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WFS1",
"hgnc_id": 12762,
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_006005.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286176",
"hgnc_id": 58722,
"hgvs_c": "n.1337+2067G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000661896.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5362,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7474661469459534,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006005.3",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226760.5",
"protein_coding": true,
"protein_id": "NP_005996.2",
"strand": true,
"transcript": "NM_006005.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3640,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000226760.5",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006005.3",
"protein_coding": true,
"protein_id": "ENSP00000226760.1",
"strand": true,
"transcript": "ENST00000226760.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 2220,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000503569.5",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423337.1",
"strand": true,
"transcript": "ENST00000503569.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 921,
"aa_ref": "R",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852027.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2146C>A",
"hgvs_p": "p.Arg716Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522086.1",
"strand": true,
"transcript": "ENST00000852027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673991.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2089C>A",
"hgvs_p": "p.Arg697Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501033.1",
"strand": true,
"transcript": "ENST00000673991.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3662,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682275.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2089C>A",
"hgvs_p": "p.Arg697Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507852.1",
"strand": true,
"transcript": "ENST00000682275.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852029.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2089C>A",
"hgvs_p": "p.Arg697Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522088.1",
"strand": true,
"transcript": "ENST00000852029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2089,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956586.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2089C>A",
"hgvs_p": "p.Arg697Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626645.1",
"strand": true,
"transcript": "ENST00000956586.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3636,
"cdna_start": 2219,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145853.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139325.1",
"strand": true,
"transcript": "NM_001145853.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684087.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506978.1",
"strand": true,
"transcript": "ENST00000684087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 890,
"aa_ref": "R",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 2148,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852028.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522087.1",
"strand": true,
"transcript": "ENST00000852028.1",
"transcript_support_level": null
},
{
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"aa_length": 890,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000938521.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608580.1",
"strand": true,
"transcript": "ENST00000938521.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000956579.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626638.1",
"strand": true,
"transcript": "ENST00000956579.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2093,
"cds_end": null,
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"cds_start": 2053,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956583.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626642.1",
"strand": true,
"transcript": "ENST00000956583.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 890,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956584.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626643.1",
"strand": true,
"transcript": "ENST00000956584.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956585.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2053C>A",
"hgvs_p": "p.Arg685Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000626644.1",
"strand": true,
"transcript": "ENST00000956585.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 2664,
"cds_start": 2044,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938520.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2044C>A",
"hgvs_p": "p.Arg682Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000608579.1",
"strand": true,
"transcript": "ENST00000938520.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 2146,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2008,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956581.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.2008C>A",
"hgvs_p": "p.Arg670Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626640.1",
"strand": true,
"transcript": "ENST00000956581.1",
"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,
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"cdna_start": 2119,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852030.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Arg658Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522089.1",
"strand": true,
"transcript": "ENST00000852030.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 863,
"aa_ref": "R",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1972,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956580.1",
"gene_hgnc_id": 12762,
"gene_symbol": "WFS1",
"hgvs_c": "c.1972C>A",
"hgvs_p": "p.Arg658Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626639.1",
"strand": true,
"transcript": "ENST00000956580.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 807,
"aa_ref": "R",
"aa_start": 602,
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