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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: 1-30936795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=30936795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PUM1",
"hgnc_id": 14957,
"hgvs_c": "c.3283G>A",
"hgvs_p": "p.Glu1095Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001020658.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000307336",
"hgnc_id": null,
"hgvs_c": "n.311C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000825160.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9871,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Spinocerebellar ataxia 47",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.687012255191803,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "E",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5385,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3283,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001020658.2",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3283G>A",
"hgvs_p": "p.Glu1095Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426105.7",
"protein_coding": true,
"protein_id": "NP_001018494.1",
"strand": false,
"transcript": "NM_001020658.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "E",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5385,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3283,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000426105.7",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3283G>A",
"hgvs_p": "p.Glu1095Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001020658.2",
"protein_coding": true,
"protein_id": "ENSP00000391723.2",
"strand": false,
"transcript": "ENST00000426105.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "E",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 3597,
"cds_end": null,
"cds_length": 3675,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000373741.8",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Glu1131Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362846.4",
"strand": false,
"transcript": "ENST00000373741.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "E",
"aa_start": 1093,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 3371,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3277,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000257075.9",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3277G>A",
"hgvs_p": "p.Glu1093Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257075.5",
"strand": false,
"transcript": "ENST00000257075.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "E",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 3285,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3205,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000440538.6",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Glu1069Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401777.2",
"strand": false,
"transcript": "ENST00000440538.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "E",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 3753,
"cds_start": 3469,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000883126.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Glu1157Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553185.1",
"strand": false,
"transcript": "ENST00000883126.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1250,
"aa_ref": "E",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 3464,
"cds_end": null,
"cds_length": 3753,
"cds_start": 3370,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883151.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3370G>A",
"hgvs_p": "p.Glu1124Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553210.1",
"strand": false,
"transcript": "ENST00000883151.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "E",
"aa_start": 1139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 3476,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3415,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000963563.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3415G>A",
"hgvs_p": "p.Glu1139Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633622.1",
"strand": false,
"transcript": "ENST00000963563.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "E",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 3522,
"cds_end": null,
"cds_length": 3693,
"cds_start": 3409,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883144.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3409G>A",
"hgvs_p": "p.Glu1137Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553203.1",
"strand": false,
"transcript": "ENST00000883144.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "E",
"aa_start": 1135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 3523,
"cds_end": null,
"cds_length": 3687,
"cds_start": 3403,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883086.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3403G>A",
"hgvs_p": "p.Glu1135Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553145.1",
"strand": false,
"transcript": "ENST00000883086.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "E",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4279,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3400,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883102.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3400G>A",
"hgvs_p": "p.Glu1134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553161.1",
"strand": false,
"transcript": "ENST00000883102.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "E",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4182,
"cdna_start": 3513,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3400,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883143.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3400G>A",
"hgvs_p": "p.Glu1134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553202.1",
"strand": false,
"transcript": "ENST00000883143.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1227,
"aa_ref": "E",
"aa_start": 1134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5431,
"cdna_start": 3444,
"cds_end": null,
"cds_length": 3684,
"cds_start": 3400,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000918939.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3400G>A",
"hgvs_p": "p.Glu1134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588998.1",
"strand": false,
"transcript": "ENST00000918939.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "E",
"aa_start": 1133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 3681,
"cds_start": 3397,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883115.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3397G>A",
"hgvs_p": "p.Glu1133Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553174.1",
"strand": false,
"transcript": "ENST00000883115.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1225,
"aa_ref": "E",
"aa_start": 1132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": 3506,
"cds_end": null,
"cds_length": 3678,
"cds_start": 3394,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883140.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3394G>A",
"hgvs_p": "p.Glu1132Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553199.1",
"strand": false,
"transcript": "ENST00000883140.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "E",
"aa_start": 1131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 3675,
"cds_start": 3391,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000918952.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Glu1131Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589011.1",
"strand": false,
"transcript": "ENST00000918952.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "E",
"aa_start": 1125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5471,
"cdna_start": 3484,
"cds_end": null,
"cds_length": 3657,
"cds_start": 3373,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000918946.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3373G>A",
"hgvs_p": "p.Glu1125Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589005.1",
"strand": false,
"transcript": "ENST00000918946.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1215,
"aa_ref": "E",
"aa_start": 1122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 3455,
"cds_end": null,
"cds_length": 3648,
"cds_start": 3364,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883157.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3364G>A",
"hgvs_p": "p.Glu1122Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553216.1",
"strand": false,
"transcript": "ENST00000883157.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "E",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 3471,
"cds_end": null,
"cds_length": 3642,
"cds_start": 3358,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883111.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3358G>A",
"hgvs_p": "p.Glu1120Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553170.1",
"strand": false,
"transcript": "ENST00000883111.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1212,
"aa_ref": "E",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4241,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 3639,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000883092.1",
"gene_hgnc_id": 14957,
"gene_symbol": "PUM1",
"hgvs_c": "c.3355G>A",
"hgvs_p": "p.Glu1119Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553151.1",
"strand": false,
"transcript": "ENST00000883092.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1212,
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