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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: 11-674651-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=674651&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_021008.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255158",
"hgnc_id": null,
"hgvs_c": "n.843+392A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000527799.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9932,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8788845539093018,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 565,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_021008.4",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382409.4",
"protein_coding": true,
"protein_id": "NP_066288.2",
"strand": false,
"transcript": "NM_021008.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 565,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000382409.4",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021008.4",
"protein_coding": true,
"protein_id": "ENSP00000371846.3",
"strand": false,
"transcript": "ENST00000382409.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000527170.5",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "n.749T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431563.1",
"strand": false,
"transcript": "ENST00000527170.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 607,
"aa_ref": "L",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1824,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000882097.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1514T>C",
"hgvs_p": "p.Leu505Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552156.1",
"strand": false,
"transcript": "ENST00000882097.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 599,
"aa_ref": "L",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000685854.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508801.1",
"strand": false,
"transcript": "ENST00000685854.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917805.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587864.1",
"strand": false,
"transcript": "ENST00000917805.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "L",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1322,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942422.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1322T>C",
"hgvs_p": "p.Leu441Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612481.1",
"strand": false,
"transcript": "ENST00000942422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440883.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427812.1",
"strand": false,
"transcript": "NM_001440883.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 2076,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917806.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587865.1",
"strand": false,
"transcript": "ENST00000917806.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 522,
"aa_ref": "L",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440884.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Leu420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427813.1",
"strand": false,
"transcript": "NM_001440884.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000942421.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1238T>C",
"hgvs_p": "p.Leu413Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612480.1",
"strand": false,
"transcript": "ENST00000942421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 490,
"aa_ref": "L",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1121,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001293634.2",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1121T>C",
"hgvs_p": "p.Leu374Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280563.1",
"strand": false,
"transcript": "NM_001293634.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "L",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000686001.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508459.1",
"strand": false,
"transcript": "ENST00000686001.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000689835.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510621.1",
"strand": false,
"transcript": "ENST00000689835.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 454,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1055,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000690068.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.1055T>C",
"hgvs_p": "p.Leu352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509089.1",
"strand": false,
"transcript": "ENST00000690068.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2238,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 972,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001367390.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354319.1",
"strand": false,
"transcript": "NM_001367390.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 972,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440885.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427814.1",
"strand": false,
"transcript": "NM_001440885.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 972,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440886.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427815.1",
"strand": false,
"transcript": "NM_001440886.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 972,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440887.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427816.1",
"strand": false,
"transcript": "NM_001440887.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 323,
"aa_ref": "L",
"aa_start": 221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 972,
"cds_start": 662,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683307.1",
"gene_hgnc_id": 14677,
"gene_symbol": "DEAF1",
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507198.1",
"strand": false,
"transcript": "ENST00000683307.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "L",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
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