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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: 20-483972-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=483972&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"PP2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSNK2A1",
"hgnc_id": 2457,
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_001895.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4_Moderate",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0685,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18192312121391296,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12984,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_177559.3",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217244.9",
"protein_coding": true,
"protein_id": "NP_808227.1",
"strand": false,
"transcript": "NM_177559.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12984,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000217244.9",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_177559.3",
"protein_coding": true,
"protein_id": "ENSP00000217244.3",
"strand": false,
"transcript": "ENST00000217244.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 255,
"aa_ref": "A",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 768,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000349736.10",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.757G>T",
"hgvs_p": "p.Ala253Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339247.6",
"strand": false,
"transcript": "ENST00000349736.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 385,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": null,
"cds_end": null,
"cds_length": 1158,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400227.8",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1060+2404G>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383086.3",
"strand": false,
"transcript": "ENST00000400227.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001362770.2",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349699.1",
"strand": false,
"transcript": "NM_001362770.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362771.2",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349700.1",
"strand": false,
"transcript": "NM_001362771.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12867,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001895.4",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001886.1",
"strand": false,
"transcript": "NM_001895.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1485,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000400217.7",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383076.2",
"strand": false,
"transcript": "ENST00000400217.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643660.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495248.1",
"strand": false,
"transcript": "ENST00000643660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645623.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495998.1",
"strand": false,
"transcript": "ENST00000645623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000646305.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495902.1",
"strand": false,
"transcript": "ENST00000646305.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12912,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000646561.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496569.1",
"strand": false,
"transcript": "ENST00000646561.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": 1562,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000646814.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495422.1",
"strand": false,
"transcript": "ENST00000646814.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000647348.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495912.1",
"strand": false,
"transcript": "ENST00000647348.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000858421.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528480.1",
"strand": false,
"transcript": "ENST00000858421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858422.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528481.1",
"strand": false,
"transcript": "ENST00000858422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000858423.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528482.1",
"strand": false,
"transcript": "ENST00000858423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858424.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528483.1",
"strand": false,
"transcript": "ENST00000858424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000858426.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528485.1",
"strand": false,
"transcript": "ENST00000858426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000858427.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
"hgvs_c": "c.1165G>T",
"hgvs_p": "p.Ala389Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528486.1",
"strand": false,
"transcript": "ENST00000858427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 391,
"aa_ref": "A",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1176,
"cds_start": 1165,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000858428.1",
"gene_hgnc_id": 2457,
"gene_symbol": "CSNK2A1",
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