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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: 19-307321-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=307321&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MIER2",
"hgnc_id": 29210,
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Val474Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001387152.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 39,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1017,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "19",
"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": 0.054887980222702026,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_017550.3",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264819.7",
"protein_coding": true,
"protein_id": "NP_060020.1",
"strand": false,
"transcript": "NM_017550.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000264819.7",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017550.3",
"protein_coding": true,
"protein_id": "ENSP00000264819.3",
"strand": false,
"transcript": "ENST00000264819.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 547,
"aa_ref": "V",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387152.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Val474Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374081.1",
"strand": false,
"transcript": "NM_001387152.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 538,
"aa_ref": "V",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387153.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Val465Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374082.1",
"strand": false,
"transcript": "NM_001387153.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000931432.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Val441Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601491.1",
"strand": false,
"transcript": "ENST00000931432.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001346105.2",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333034.1",
"strand": false,
"transcript": "NM_001346105.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 509,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 2595,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387155.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374084.1",
"strand": false,
"transcript": "NM_001387155.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 503,
"aa_ref": "V",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871288.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1288G>A",
"hgvs_p": "p.Val430Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541347.1",
"strand": false,
"transcript": "ENST00000871288.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001387154.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Val429Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374083.1",
"strand": false,
"transcript": "NM_001387154.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2533,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871287.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Val394Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541346.1",
"strand": false,
"transcript": "ENST00000871287.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "V",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001387156.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Val388Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374085.1",
"strand": false,
"transcript": "NM_001387156.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "V",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2795,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1162,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001387157.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Val388Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374086.1",
"strand": false,
"transcript": "NM_001387157.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 361,
"aa_ref": "V",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1086,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931431.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601490.1",
"strand": false,
"transcript": "ENST00000931431.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 407,
"cds_end": null,
"cds_length": 630,
"cds_start": 406,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000619835.4",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.406G>A",
"hgvs_p": "p.Val136Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482489.2",
"strand": false,
"transcript": "ENST00000619835.4",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 552,
"aa_ref": "V",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438969.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1420G>A",
"hgvs_p": "p.Val474Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294925.1",
"strand": false,
"transcript": "XM_047438969.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 550,
"aa_ref": "V",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438970.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Val472Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294926.1",
"strand": false,
"transcript": "XM_047438970.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 545,
"aa_ref": "V",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438971.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Val467Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294927.1",
"strand": false,
"transcript": "XM_047438971.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 540,
"aa_ref": "V",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006722769.5",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Val467Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722832.1",
"strand": false,
"transcript": "XM_006722769.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047438972.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294928.1",
"strand": false,
"transcript": "XM_047438972.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6487,
"cdna_start": 5131,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438973.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294929.1",
"strand": false,
"transcript": "XM_047438973.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5557,
"cdna_start": 4201,
"cds_end": null,
"cds_length": 1545,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047438974.1",
"gene_hgnc_id": 29210,
"gene_symbol": "MIER2",
"hgvs_c": "c.1306G>A",
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