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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: 20-483965-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=483965&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 483965,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001895.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "NM_177559.3",
"protein_id": "NP_808227.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "ENST00000217244.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177559.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000217244.9",
"protein_id": "ENSP00000217244.3",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 12984,
"mane_select": "NM_177559.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217244.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.764A>G",
"hgvs_p": "p.Gln255Arg",
"transcript": "ENST00000349736.10",
"protein_id": "ENSP00000339247.6",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 255,
"cds_start": 764,
"cds_end": null,
"cds_length": 768,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349736.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1060+2411A>G",
"hgvs_p": null,
"transcript": "ENST00000400227.8",
"protein_id": "ENSP00000383086.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": null,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400227.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "NM_001362770.2",
"protein_id": "NP_001349699.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362770.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "NM_001362771.2",
"protein_id": "NP_001349700.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362771.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "NM_001895.4",
"protein_id": "NP_001886.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 12867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001895.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000400217.7",
"protein_id": "ENSP00000383076.2",
"transcript_support_level": 2,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400217.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000643660.1",
"protein_id": "ENSP00000495248.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643660.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000645623.1",
"protein_id": "ENSP00000495998.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645623.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000646305.1",
"protein_id": "ENSP00000495902.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646305.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000646561.1",
"protein_id": "ENSP00000496569.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 12912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646561.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000646814.1",
"protein_id": "ENSP00000495422.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646814.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000647348.1",
"protein_id": "ENSP00000495912.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647348.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858421.1",
"protein_id": "ENSP00000528480.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858421.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858422.1",
"protein_id": "ENSP00000528481.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858422.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858423.1",
"protein_id": "ENSP00000528482.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858423.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858424.1",
"protein_id": "ENSP00000528483.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858424.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858426.1",
"protein_id": "ENSP00000528485.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858426.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858427.1",
"protein_id": "ENSP00000528486.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858427.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858428.1",
"protein_id": "ENSP00000528487.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 391,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858428.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000858429.1",
"protein_id": "ENSP00000528488.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.2,
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{
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"pathogenic_score": 3,
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"PP2",
"BP4_Moderate",
"BP6_Moderate"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}