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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: 3-146455306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146455306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PLSCR2",
"hgnc_id": 16494,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_001199978.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.0656,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "3",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03804752230644226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 500,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395437.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000696113.1",
"protein_coding": true,
"protein_id": "NP_001382366.1",
"strand": false,
"transcript": "NM_001395437.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 500,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696113.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395437.1",
"protein_coding": true,
"protein_id": "ENSP00000512407.1",
"strand": false,
"transcript": "ENST00000696113.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 293,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1208,
"cdna_start": 530,
"cds_end": null,
"cds_length": 882,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000613069.4",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478902.1",
"strand": false,
"transcript": "ENST00000613069.4",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1272,
"cdna_start": 587,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336685.6",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338707.2",
"strand": false,
"transcript": "ENST00000336685.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": 704,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000610787.5",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478044.1",
"strand": false,
"transcript": "ENST00000610787.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001199978.3",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186907.1",
"strand": false,
"transcript": "NM_001199978.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 903,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395440.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382369.1",
"strand": false,
"transcript": "NM_001395440.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 913,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000497985.5",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420132.1",
"strand": false,
"transcript": "ENST00000497985.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 695,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696119.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512413.1",
"strand": false,
"transcript": "ENST00000696119.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 293,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 530,
"cds_end": null,
"cds_length": 882,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001199979.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186908.1",
"strand": false,
"transcript": "NM_001199979.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1465,
"cdna_start": 780,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395438.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382367.1",
"strand": false,
"transcript": "NM_001395438.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 890,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395439.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382368.1",
"strand": false,
"transcript": "NM_001395439.1",
"transcript_support_level": null
},
{
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"aa_length": 224,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1328,
"cdna_start": 643,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020359.4",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065092.1",
"strand": false,
"transcript": "NM_020359.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 224,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 580,
"cds_end": null,
"cds_length": 675,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696120.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512414.1",
"strand": false,
"transcript": "ENST00000696120.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 160,
"aa_ref": "R",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": 530,
"cds_end": null,
"cds_length": 483,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000489015.1",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.254G>A",
"hgvs_p": "p.Arg85Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418444.1",
"strand": false,
"transcript": "ENST00000489015.1",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453670.2",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309438.1",
"strand": false,
"transcript": "XM_024453670.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453671.2",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309439.1",
"strand": false,
"transcript": "XM_024453671.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 719,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453672.2",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309440.1",
"strand": false,
"transcript": "XM_024453672.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 969,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_024453673.2",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309441.1",
"strand": false,
"transcript": "XM_024453673.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 297,
"aa_ref": "R",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1338,
"cdna_start": 653,
"cds_end": null,
"cds_length": 894,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_024453674.2",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309442.1",
"strand": false,
"transcript": "XM_024453674.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 293,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": 530,
"cds_end": null,
"cds_length": 882,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011513022.4",
"gene_hgnc_id": 16494,
"gene_symbol": "PLSCR2",
"hgvs_c": "c.461G>A",
"hgvs_p": "p.Arg154Gln",
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