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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: 12-42470315-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42470315&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PRICKLE1",
"hgnc_id": 17019,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_153026.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 4420,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 1B, progressive myoclonic,Epilepsy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5878,
"cdna_start": 507,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_153026.3",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345127.9",
"protein_coding": true,
"protein_id": "NP_694571.2",
"strand": false,
"transcript": "NM_153026.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5878,
"cdna_start": 507,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000345127.9",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153026.3",
"protein_coding": true,
"protein_id": "ENSP00000345064.3",
"strand": false,
"transcript": "ENST00000345127.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 108,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 456,
"cdna_start": 304,
"cds_end": null,
"cds_length": 329,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000547113.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446699.1",
"strand": false,
"transcript": "ENST00000547113.1",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 108,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 711,
"cdna_start": 559,
"cds_end": null,
"cds_length": 329,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640646.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492483.1",
"strand": false,
"transcript": "ENST00000640646.1",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5836,
"cdna_start": 465,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144881.2",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138353.1",
"strand": false,
"transcript": "NM_001144881.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": 478,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144882.2",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138354.1",
"strand": false,
"transcript": "NM_001144882.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5846,
"cdna_start": 475,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144883.2",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138355.1",
"strand": false,
"transcript": "NM_001144883.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 307,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000445766.7",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398947.2",
"strand": false,
"transcript": "ENST00000445766.7",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4277,
"cdna_start": 521,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000455697.6",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401060.1",
"strand": false,
"transcript": "ENST00000455697.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 458,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000548696.6",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448359.1",
"strand": false,
"transcript": "ENST00000548696.6",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3311,
"cdna_start": 463,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000552240.6",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449819.1",
"strand": false,
"transcript": "ENST00000552240.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
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"aa_length": 831,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 478,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639566.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492332.1",
"strand": false,
"transcript": "ENST00000639566.1",
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},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_length": 5761,
"cdna_start": 396,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000639589.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491051.1",
"strand": false,
"transcript": "ENST00000639589.1",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
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"aa_length": 831,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 504,
"cds_end": null,
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"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639958.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492644.1",
"strand": false,
"transcript": "ENST00000639958.1",
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},
{
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3778,
"cdna_start": 475,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640055.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492763.1",
"strand": false,
"transcript": "ENST00000640055.1",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
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"aa_length": 831,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4278,
"cdna_start": 522,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000640132.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491228.1",
"strand": false,
"transcript": "ENST00000640132.1",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
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"aa_length": 831,
"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 796,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899955.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000570014.1",
"strand": false,
"transcript": "ENST00000899955.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_length": 4280,
"cdna_start": 508,
"cds_end": null,
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"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899957.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570016.1",
"strand": false,
"transcript": "ENST00000899957.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "Y",
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"biotype": "protein_coding",
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"cdna_length": 3163,
"cdna_start": 285,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000899959.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570018.1",
"strand": false,
"transcript": "ENST00000899959.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 520,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899960.1",
"gene_hgnc_id": 17019,
"gene_symbol": "PRICKLE1",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Tyr59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570019.1",
"strand": false,
"transcript": "ENST00000899960.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "Y",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2496,
"cds_start": 177,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
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