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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: 17-50169151-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50169151&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SGCA",
"hgnc_id": 10805,
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000023.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000253730",
"hgnc_id": null,
"hgvs_c": "n.544-10528G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000751801.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3",
"acmg_score": 7,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.2068,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.769605278968811,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000023.4",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262018.8",
"protein_coding": true,
"protein_id": "NP_000014.1",
"strand": true,
"transcript": "NM_000023.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1429,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000262018.8",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000023.4",
"protein_coding": true,
"protein_id": "ENSP00000262018.3",
"strand": true,
"transcript": "ENST00000262018.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000344627.10",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.584+579C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345522.6",
"strand": true,
"transcript": "ENST00000344627.10",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 417,
"aa_ref": "S",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1254,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952408.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.734C>A",
"hgvs_p": "p.Ser245Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622467.1",
"strand": true,
"transcript": "ENST00000952408.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1477,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1203,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895793.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565852.1",
"strand": true,
"transcript": "ENST00000895793.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 395,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1424,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1188,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952409.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622468.1",
"strand": true,
"transcript": "ENST00000952409.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 786,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895791.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565850.1",
"strand": true,
"transcript": "ENST00000895791.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000895792.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565851.1",
"strand": true,
"transcript": "ENST00000895792.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1408,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895798.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565857.1",
"strand": true,
"transcript": "ENST00000895798.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1164,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952411.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622470.1",
"strand": true,
"transcript": "ENST00000952411.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 356,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1329,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1071,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895796.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.644C>A",
"hgvs_p": "p.Ser215Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565855.1",
"strand": true,
"transcript": "ENST00000895796.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1044,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682109.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.524C>A",
"hgvs_p": "p.Ser175Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508041.1",
"strand": true,
"transcript": "ENST00000682109.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 315,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": 458,
"cds_end": null,
"cds_length": 948,
"cds_start": 428,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952406.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.428C>A",
"hgvs_p": "p.Ser143Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622465.1",
"strand": true,
"transcript": "ENST00000952406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 364,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": null,
"cds_end": null,
"cds_length": 1095,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952404.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.585-10C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622463.1",
"strand": true,
"transcript": "ENST00000952404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 359,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1341,
"cdna_start": null,
"cds_end": null,
"cds_length": 1080,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895794.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.584+579C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565853.1",
"strand": true,
"transcript": "ENST00000895794.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504073.2",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.597+47C>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422030.2",
"strand": true,
"transcript": "ENST00000504073.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952405.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.464+579C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622464.1",
"strand": true,
"transcript": "ENST00000952405.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135697.3",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.584+579C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129169.1",
"strand": true,
"transcript": "NM_001135697.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": null,
"cds_end": null,
"cds_length": 672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895795.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.464+579C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565854.1",
"strand": true,
"transcript": "ENST00000895795.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 218,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 908,
"cdna_start": null,
"cds_end": null,
"cds_length": 657,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895797.1",
"gene_hgnc_id": 10805,
"gene_symbol": "SGCA",
"hgvs_c": "c.449+579C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565856.1",
"strand": true,
"transcript": "ENST00000895797.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 210,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": null,
"cds_end": null,
"cds_length": 633,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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