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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: 13-95859625-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95859625&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "UGGT2",
"hgnc_id": 15664,
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Trp1264*",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020121.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "W",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4850,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3791,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_020121.4",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Trp1264*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376747.8",
"protein_coding": true,
"protein_id": "NP_064506.3",
"strand": false,
"transcript": "NM_020121.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "W",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4850,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 4551,
"cds_start": 3791,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000376747.8",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Trp1264*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020121.4",
"protein_coding": true,
"protein_id": "ENSP00000365938.3",
"strand": false,
"transcript": "ENST00000376747.8",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1543,
"aa_ref": "W",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4939,
"cdna_start": 3976,
"cds_end": null,
"cds_length": 4632,
"cds_start": 3872,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000943424.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3872G>A",
"hgvs_p": "p.Trp1291*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613483.1",
"strand": false,
"transcript": "ENST00000943424.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "W",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 3933,
"cds_end": null,
"cds_length": 4584,
"cds_start": 3824,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000943423.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3824G>A",
"hgvs_p": "p.Trp1275*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613482.1",
"strand": false,
"transcript": "ENST00000943423.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "W",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4829,
"cdna_start": 3863,
"cds_end": null,
"cds_length": 4545,
"cds_start": 3785,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000943428.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3785G>A",
"hgvs_p": "p.Trp1262*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613487.1",
"strand": false,
"transcript": "ENST00000943428.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "W",
"aa_start": 1262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4829,
"cdna_start": 3863,
"cds_end": null,
"cds_length": 4545,
"cds_start": 3785,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000943429.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3785G>A",
"hgvs_p": "p.Trp1262*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613488.1",
"strand": false,
"transcript": "ENST00000943429.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "W",
"aa_start": 1259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4837,
"cdna_start": 3867,
"cds_end": null,
"cds_length": 4536,
"cds_start": 3776,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940279.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3776G>A",
"hgvs_p": "p.Trp1259*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610338.1",
"strand": false,
"transcript": "ENST00000940279.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "W",
"aa_start": 1232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 3793,
"cds_end": null,
"cds_length": 4455,
"cds_start": 3695,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940277.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3695G>A",
"hgvs_p": "p.Trp1232*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610336.1",
"strand": false,
"transcript": "ENST00000940277.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "W",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 3739,
"cds_end": null,
"cds_length": 4419,
"cds_start": 3659,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940280.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Trp1220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610339.1",
"strand": false,
"transcript": "ENST00000940280.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "W",
"aa_start": 1120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": 3454,
"cds_end": null,
"cds_length": 4119,
"cds_start": 3359,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000940278.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3359G>A",
"hgvs_p": "p.Trp1120*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610337.1",
"strand": false,
"transcript": "ENST00000940278.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "W",
"aa_start": 1076,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 3323,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3227,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000943425.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3227G>A",
"hgvs_p": "p.Trp1076*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613484.1",
"strand": false,
"transcript": "ENST00000943425.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1291,
"aa_ref": "W",
"aa_start": 1039,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 3876,
"cds_start": 3116,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000943426.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3116G>A",
"hgvs_p": "p.Trp1039*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613485.1",
"strand": false,
"transcript": "ENST00000943426.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "W",
"aa_start": 1038,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 3203,
"cds_end": null,
"cds_length": 3873,
"cds_start": 3113,
"consequences": [
"stop_gained"
],
"exon_count": 32,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000943427.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3113G>A",
"hgvs_p": "p.Trp1038*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613486.1",
"strand": false,
"transcript": "ENST00000943427.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "W",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5550,
"cdna_start": 3961,
"cds_end": null,
"cds_length": 4773,
"cds_start": 3872,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_011521094.2",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3872G>A",
"hgvs_p": "p.Trp1291*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519396.1",
"strand": false,
"transcript": "XM_011521094.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "W",
"aa_start": 1264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 4692,
"cds_start": 3791,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011521095.2",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3791G>A",
"hgvs_p": "p.Trp1264*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519397.1",
"strand": false,
"transcript": "XM_011521095.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1546,
"aa_ref": "W",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5418,
"cdna_start": 3829,
"cds_end": null,
"cds_length": 4641,
"cds_start": 3740,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011521096.2",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3740G>A",
"hgvs_p": "p.Trp1247*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519398.1",
"strand": false,
"transcript": "XM_011521096.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1543,
"aa_ref": "W",
"aa_start": 1291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": 3961,
"cds_end": null,
"cds_length": 4632,
"cds_start": 3872,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_011521097.2",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3872G>A",
"hgvs_p": "p.Trp1291*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519399.1",
"strand": false,
"transcript": "XM_011521097.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1519,
"aa_ref": "W",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 3748,
"cds_end": null,
"cds_length": 4560,
"cds_start": 3659,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017020662.2",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Trp1220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876151.1",
"strand": false,
"transcript": "XM_017020662.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "W",
"aa_start": 1220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 3748,
"cds_end": null,
"cds_length": 4419,
"cds_start": 3659,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047430471.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.3659G>A",
"hgvs_p": "p.Trp1220*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286427.1",
"strand": false,
"transcript": "XM_047430471.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1290,
"aa_ref": "W",
"aa_start": 991,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 3873,
"cds_start": 2972,
"consequences": [
"stop_gained"
],
"exon_count": 34,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047430472.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.2972G>A",
"hgvs_p": "p.Trp991*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286428.1",
"strand": false,
"transcript": "XM_047430472.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "W",
"aa_start": 971,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 3014,
"cds_end": null,
"cds_length": 3813,
"cds_start": 2912,
"consequences": [
"stop_gained"
],
"exon_count": 33,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047430473.1",
"gene_hgnc_id": 15664,
"gene_symbol": "UGGT2",
"hgvs_c": "c.2912G>A",
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