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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: 12-42460417-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42460417&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42460417,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153026.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "NM_153026.3",
"protein_id": "NP_694571.2",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "ENST00000345127.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153026.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000345127.9",
"protein_id": "ENSP00000345064.3",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": "NM_153026.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345127.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257225",
"gene_hgnc_id": 58444,
"hgvs_c": "n.1052G>C",
"hgvs_p": null,
"transcript": "ENST00000547824.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000547824.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "NM_001144881.2",
"protein_id": "NP_001138353.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144881.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "NM_001144882.2",
"protein_id": "NP_001138354.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144882.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "NM_001144883.2",
"protein_id": "NP_001138355.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144883.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000445766.7",
"protein_id": "ENSP00000398947.2",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445766.7"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000455697.6",
"protein_id": "ENSP00000401060.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 4277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455697.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000548696.6",
"protein_id": "ENSP00000448359.1",
"transcript_support_level": 2,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548696.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000552240.6",
"protein_id": "ENSP00000449819.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552240.6"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000639566.1",
"protein_id": "ENSP00000492332.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639566.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000639589.1",
"protein_id": "ENSP00000491051.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639589.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000639958.1",
"protein_id": "ENSP00000492644.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 3803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639958.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000640055.1",
"protein_id": "ENSP00000492763.1",
"transcript_support_level": 5,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640055.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000640132.1",
"protein_id": "ENSP00000491228.1",
"transcript_support_level": 2,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640132.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899955.1",
"protein_id": "ENSP00000570014.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899955.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899957.1",
"protein_id": "ENSP00000570016.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2219,
"cdna_end": null,
"cdna_length": 4280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899957.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899959.1",
"protein_id": "ENSP00000570018.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899959.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899960.1",
"protein_id": "ENSP00000570019.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899960.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899961.1",
"protein_id": "ENSP00000570020.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899961.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899962.1",
"protein_id": "ENSP00000570021.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899962.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRICKLE1",
"gene_hgnc_id": 17019,
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu",
"transcript": "ENST00000899963.1",
"protein_id": "ENSP00000570022.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 831,
"cds_start": 1888,
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{
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{
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],
"gene_symbol": "PRICKLE1",
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"hom_count_reference_population": 2,
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"computational_score_selected": 0.04875338077545166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.885,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_153026.3",
"gene_symbol": "PRICKLE1",
"hgnc_id": 17019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1888C>G",
"hgvs_p": "p.Gln630Glu"
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{
"score": -9,
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"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000547824.1",
"gene_symbol": "ENSG00000257225",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1052G>C",
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}
],
"clinvar_disease": " 1B, progressive myoclonic,Epilepsy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Epilepsy, progressive myoclonic, 1B",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}