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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: 3-11559362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11559362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "VGLL4",
"hgnc_id": 28966,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001128219.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ATG7",
"hgnc_id": 16935,
"hgvs_c": "c.1147-4897C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001349238.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 129,
"alphamissense_prediction": null,
"alphamissense_score": 0.3431,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07172337174415588,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "G",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 986,
"cds_end": null,
"cds_length": 891,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001128219.3",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000430365.7",
"protein_coding": true,
"protein_id": "NP_001121691.1",
"strand": false,
"transcript": "NM_001128219.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 296,
"aa_ref": "G",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 986,
"cds_end": null,
"cds_length": 891,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000430365.7",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128219.3",
"protein_coding": true,
"protein_id": "ENSP00000404251.2",
"strand": false,
"transcript": "ENST00000430365.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 295,
"aa_ref": "G",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1428,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 888,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000426568.5",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413030.2",
"strand": false,
"transcript": "ENST00000426568.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 937,
"cds_end": null,
"cds_length": 873,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000273038.7",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273038.3",
"strand": false,
"transcript": "ENST00000273038.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 210,
"aa_ref": "G",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 938,
"cdna_start": 423,
"cds_end": null,
"cds_length": 633,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000451674.6",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416615.2",
"strand": false,
"transcript": "ENST00000451674.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 206,
"aa_ref": "G",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1025,
"cdna_start": 637,
"cds_end": null,
"cds_length": 621,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424529.6",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Gly107Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402878.2",
"strand": false,
"transcript": "ENST00000424529.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 295,
"aa_ref": "G",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 863,
"cds_end": null,
"cds_length": 888,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001284390.2",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.586G>A",
"hgvs_p": "p.Gly196Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271319.1",
"strand": false,
"transcript": "NM_001284390.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 730,
"cds_end": null,
"cds_length": 873,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_014667.4",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055482.2",
"strand": false,
"transcript": "NM_014667.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 765,
"cds_end": null,
"cds_length": 696,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001284391.1",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Gly132Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271320.1",
"strand": false,
"transcript": "NM_001284391.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1554,
"cdna_start": 765,
"cds_end": null,
"cds_length": 696,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000413604.5",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Gly132Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404624.1",
"strand": false,
"transcript": "ENST00000413604.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": 626,
"cds_end": null,
"cds_length": 671,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000445411.5",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412923.1",
"strand": false,
"transcript": "ENST00000445411.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 210,
"aa_ref": "G",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 388,
"cds_end": null,
"cds_length": 633,
"cds_start": 331,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001128220.3",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121692.1",
"strand": false,
"transcript": "NM_001128220.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 206,
"aa_ref": "G",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 511,
"cds_end": null,
"cds_length": 621,
"cds_start": 319,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001128221.3",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.319G>A",
"hgvs_p": "p.Gly107Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121693.1",
"strand": false,
"transcript": "NM_001128221.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 199,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": 762,
"cds_end": null,
"cds_length": 601,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000418000.5",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394439.1",
"strand": false,
"transcript": "ENST00000418000.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 189,
"aa_ref": "G",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": 755,
"cds_end": null,
"cds_length": 570,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000458499.5",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Gly187Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394123.1",
"strand": false,
"transcript": "ENST00000458499.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 299,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 601,
"cds_end": null,
"cds_length": 900,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047449259.1",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Gly200Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305215.1",
"strand": false,
"transcript": "XM_047449259.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 291,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 656,
"cds_end": null,
"cds_length": 876,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047449260.1",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Gly192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305216.1",
"strand": false,
"transcript": "XM_047449260.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 697,
"cds_end": null,
"cds_length": 873,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024453835.2",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309603.1",
"strand": false,
"transcript": "XM_024453835.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 290,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 932,
"cds_end": null,
"cds_length": 873,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024453836.2",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.571G>A",
"hgvs_p": "p.Gly191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309604.1",
"strand": false,
"transcript": "XM_024453836.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 622,
"cds_end": null,
"cds_length": 696,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011534269.2",
"gene_hgnc_id": 28966,
"gene_symbol": "VGLL4",
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Gly132Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532571.1",
"strand": false,
"transcript": "XM_011534269.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 812,
"cds_end": null,
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