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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: X-16678417-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16678417&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTPS2",
"hgnc_id": 2520,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_019857.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": 0.0884,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.92,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.057022809982299805,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_175859.3",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359276.9",
"protein_coding": true,
"protein_id": "NP_787055.1",
"strand": false,
"transcript": "NM_175859.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000359276.9",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_175859.3",
"protein_coding": true,
"protein_id": "ENSP00000352222.4",
"strand": false,
"transcript": "ENST00000359276.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000380241.7",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369590.3",
"strand": false,
"transcript": "ENST00000380241.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 615,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2278,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000944988.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615047.1",
"strand": false,
"transcript": "ENST00000944988.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4323,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001144002.2",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137474.1",
"strand": false,
"transcript": "NM_001144002.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_019857.5",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_062831.3",
"strand": false,
"transcript": "NM_019857.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4319,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000443824.5",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401264.1",
"strand": false,
"transcript": "ENST00000443824.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870414.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540473.1",
"strand": false,
"transcript": "ENST00000870414.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3773,
"cdna_start": 1233,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870415.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540474.1",
"strand": false,
"transcript": "ENST00000870415.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870416.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540475.1",
"strand": false,
"transcript": "ENST00000870416.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870417.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540476.1",
"strand": false,
"transcript": "ENST00000870417.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870418.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540477.1",
"strand": false,
"transcript": "ENST00000870418.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870419.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540478.1",
"strand": false,
"transcript": "ENST00000870419.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4022,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000870421.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540480.1",
"strand": false,
"transcript": "ENST00000870421.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3750,
"cdna_start": 1210,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870422.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540481.1",
"strand": false,
"transcript": "ENST00000870422.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000870424.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540483.1",
"strand": false,
"transcript": "ENST00000870424.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870425.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540484.1",
"strand": false,
"transcript": "ENST00000870425.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000870428.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540487.1",
"strand": false,
"transcript": "ENST00000870428.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000913873.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583932.1",
"strand": false,
"transcript": "ENST00000913873.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000913875.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Glu347Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583934.1",
"strand": false,
"transcript": "ENST00000913875.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 586,
"aa_ref": "E",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000944979.1",
"gene_hgnc_id": 2520,
"gene_symbol": "CTPS2",
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}