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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: 7-66082920-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=66082920&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ASL",
"hgnc_id": 746,
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_000048.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3_Strong,PP5",
"acmg_score": 10,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.8458,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.56,
"chr": "7",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Argininosuccinate lyase deficiency,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:3 LP:3 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9785467386245728,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1395,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000048.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304874.14",
"protein_coding": true,
"protein_id": "NP_000039.2",
"strand": true,
"transcript": "NM_000048.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1395,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000304874.14",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000048.4",
"protein_coding": true,
"protein_id": "ENSP00000307188.9",
"strand": true,
"transcript": "ENST00000304874.14",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1608,
"cdna_start": 525,
"cds_end": null,
"cds_length": 1395,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395332.8",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378741.3",
"strand": true,
"transcript": "ENST00000395332.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 996,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000496336.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "n.573G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496336.1",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 495,
"aa_ref": "R",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1488,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000906815.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576874.1",
"strand": true,
"transcript": "ENST00000906815.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1425,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906826.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576885.1",
"strand": true,
"transcript": "ENST00000906826.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 555,
"cds_end": null,
"cds_length": 1425,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906828.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576887.1",
"strand": true,
"transcript": "ENST00000906828.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 473,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 474,
"cds_end": null,
"cds_length": 1422,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952733.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622792.1",
"strand": true,
"transcript": "ENST00000952733.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1395,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001024943.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020114.1",
"strand": true,
"transcript": "NM_001024943.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1395,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906801.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576860.1",
"strand": true,
"transcript": "ENST00000906801.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 463,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1392,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906807.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576866.1",
"strand": true,
"transcript": "ENST00000906807.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 459,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1380,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906823.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576882.1",
"strand": true,
"transcript": "ENST00000906823.1",
"transcript_support_level": null
},
{
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"aa_length": 449,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1350,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906824.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576883.1",
"strand": true,
"transcript": "ENST00000906824.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 445,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1338,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952732.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622791.1",
"strand": true,
"transcript": "ENST00000952732.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 444,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1335,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001024944.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020115.1",
"strand": true,
"transcript": "NM_001024944.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1335,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395331.4",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378740.3",
"strand": true,
"transcript": "ENST00000395331.4",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1678,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1335,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906808.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576867.1",
"strand": true,
"transcript": "ENST00000906808.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1317,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001024946.2",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020117.1",
"strand": true,
"transcript": "NM_001024946.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 567,
"cds_end": null,
"cds_length": 1317,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000380839.9",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370219.4",
"strand": true,
"transcript": "ENST00000380839.9",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1317,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000673518.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499889.1",
"strand": true,
"transcript": "ENST00000673518.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 438,
"aa_ref": "R",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1317,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906800.1",
"gene_hgnc_id": 746,
"gene_symbol": "ASL",
"hgvs_c": "c.332G>A",
"hgvs_p": "p.Arg111Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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