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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: 7-100106814-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100106814&ref=G&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": "AP4M1",
"hgnc_id": 574,
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001363671.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "TAF6",
"hgnc_id": 11540,
"hgvs_c": "c.*432C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000460673.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.105,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16597849130630493,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004722.4",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359593.9",
"protein_coding": true,
"protein_id": "NP_004713.2",
"strand": true,
"transcript": "NM_004722.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3591,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000359593.9",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004722.4",
"protein_coding": true,
"protein_id": "ENSP00000352603.4",
"strand": true,
"transcript": "ENST00000359593.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1572,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000421755.5",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412185.1",
"strand": true,
"transcript": "ENST00000421755.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001363671.2",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350600.1",
"strand": true,
"transcript": "NM_001363671.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001438824.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425753.1",
"strand": true,
"transcript": "NM_001438824.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000429084.5",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403663.1",
"strand": true,
"transcript": "ENST00000429084.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907395.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577454.1",
"strand": true,
"transcript": "ENST00000907395.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5056,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918985.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Gly439Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589044.1",
"strand": true,
"transcript": "ENST00000918985.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 458,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1309,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970615.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1309G>T",
"hgvs_p": "p.Gly437Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640674.1",
"strand": true,
"transcript": "ENST00000970615.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 1368,
"cds_start": 1300,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970616.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1300G>T",
"hgvs_p": "p.Gly434Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640675.1",
"strand": true,
"transcript": "ENST00000970616.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001438825.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425754.1",
"strand": true,
"transcript": "NM_001438825.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001438826.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425755.1",
"strand": true,
"transcript": "NM_001438826.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713591.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518888.1",
"strand": true,
"transcript": "ENST00000713591.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713791.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1294G>T",
"hgvs_p": "p.Gly432Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519097.1",
"strand": true,
"transcript": "ENST00000713791.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 450,
"aa_ref": "G",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1285,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713792.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Gly429Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519098.1",
"strand": true,
"transcript": "ENST00000713792.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 448,
"aa_ref": "G",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1347,
"cds_start": 1279,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000970614.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Gly427Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640673.1",
"strand": true,
"transcript": "ENST00000970614.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970617.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1264G>T",
"hgvs_p": "p.Gly422Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640676.1",
"strand": true,
"transcript": "ENST00000970617.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 436,
"aa_ref": "G",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1311,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000907397.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1243G>T",
"hgvs_p": "p.Gly415Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577456.1",
"strand": true,
"transcript": "ENST00000907397.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 435,
"aa_ref": "G",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1240,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970618.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1240G>T",
"hgvs_p": "p.Gly414Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640677.1",
"strand": true,
"transcript": "ENST00000970618.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "G",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1260,
"cds_start": 1192,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001438827.1",
"gene_hgnc_id": 574,
"gene_symbol": "AP4M1",
"hgvs_c": "c.1192G>T",
"hgvs_p": "p.Gly398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425756.1",
"strand": true,
"transcript": "NM_001438827.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 419,
"aa_ref": "G",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1697,
"cdna_start": 1335,
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