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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: 12-53160147-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53160147&ref=C&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": "CSAD",
"hgnc_id": 18966,
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_015989.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000257808",
"hgnc_id": 58448,
"hgvs_c": "n.268C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000550908.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.834,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8957114219665527,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001244705.2",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444623.6",
"protein_coding": true,
"protein_id": "NP_001231634.1",
"strand": false,
"transcript": "NM_001244705.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2614,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000444623.6",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001244705.2",
"protein_coding": true,
"protein_id": "ENSP00000415485.1",
"strand": false,
"transcript": "ENST00000444623.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000267085.8",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000267085.3",
"strand": false,
"transcript": "ENST00000267085.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1774,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000453446.6",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410648.2",
"strand": false,
"transcript": "ENST00000453446.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": 2386,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943689.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613748.1",
"strand": false,
"transcript": "ENST00000943689.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 524,
"aa_ref": "R",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885699.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555758.1",
"strand": false,
"transcript": "ENST00000885699.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 520,
"aa_ref": "R",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1220,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_015989.5",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1220G>C",
"hgvs_p": "p.Arg407Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057073.4",
"strand": false,
"transcript": "NM_015989.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 518,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1557,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000379850.7",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369179.3",
"strand": false,
"transcript": "ENST00000379850.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885695.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555754.1",
"strand": false,
"transcript": "ENST00000885695.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885696.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555755.1",
"strand": false,
"transcript": "ENST00000885696.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885697.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555756.1",
"strand": false,
"transcript": "ENST00000885697.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885698.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555757.1",
"strand": false,
"transcript": "ENST00000885698.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 493,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000885700.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555759.1",
"strand": false,
"transcript": "ENST00000885700.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885701.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555760.1",
"strand": false,
"transcript": "ENST00000885701.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000885702.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555761.1",
"strand": false,
"transcript": "ENST00000885702.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943678.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613737.1",
"strand": false,
"transcript": "ENST00000943678.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 493,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943679.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613738.1",
"strand": false,
"transcript": "ENST00000943679.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 493,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943680.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613739.1",
"strand": false,
"transcript": "ENST00000943680.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 1309,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943681.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613740.1",
"strand": false,
"transcript": "ENST00000943681.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000943685.1",
"gene_hgnc_id": 18966,
"gene_symbol": "CSAD",
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Arg380Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613744.1",
"strand": false,
"transcript": "ENST00000943685.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 493,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3310,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1139,
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