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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-63638178-GGA-AGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=63638178&ref=GGA&alt=AGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGEF9",
"hgnc_id": 14561,
"hgvs_c": "c.1438_1440delTCCinsCCT",
"hgvs_p": "p.Ser480Pro",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001353923.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 523,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353921.2",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1420_1422delTCCinsCCT",
"hgvs_p": "p.Ser474Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000671741.2",
"protein_coding": true,
"protein_id": "NP_001340850.1",
"strand": false,
"transcript": "NM_001353921.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 523,
"aa_ref": "S",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671741.2",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1420_1422delTCCinsCCT",
"hgvs_p": "p.Ser474Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353921.2",
"protein_coding": true,
"protein_id": "ENSP00000500715.1",
"strand": false,
"transcript": "ENST00000671741.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5413,
"cdna_start": 2202,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000253401.10",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253401.6",
"strand": false,
"transcript": "ENST00000253401.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "S",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1093,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000624843.3",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1093_1095delTCCinsCCT",
"hgvs_p": "p.Ser365Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485626.1",
"strand": false,
"transcript": "ENST00000624843.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374878.5",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1375-2772_1375-2770delTCCinsCCT",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364012.2",
"strand": false,
"transcript": "ENST00000374878.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 564,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374870.8",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364004.5",
"strand": false,
"transcript": "ENST00000374870.8",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 529,
"aa_ref": "S",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4662,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353923.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1438_1440delTCCinsCCT",
"hgvs_p": "p.Ser480Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340852.1",
"strand": false,
"transcript": "NM_001353923.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 529,
"aa_ref": "S",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000635729.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1438_1440delTCCinsCCT",
"hgvs_p": "p.Ser480Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490940.1",
"strand": false,
"transcript": "ENST00000635729.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 520,
"aa_ref": "S",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922913.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1411_1413delTCCinsCCT",
"hgvs_p": "p.Ser471Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592972.1",
"strand": false,
"transcript": "ENST00000922913.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5179,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369030.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355959.1",
"strand": false,
"transcript": "NM_001369030.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5175,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369031.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355960.1",
"strand": false,
"transcript": "NM_001369031.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5419,
"cdna_start": 2208,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369032.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355961.1",
"strand": false,
"transcript": "NM_001369032.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5423,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015185.3",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056000.1",
"strand": false,
"transcript": "NM_015185.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "S",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 1923,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000671907.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1399_1401delTCCinsCCT",
"hgvs_p": "p.Ser467Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500829.1",
"strand": false,
"transcript": "ENST00000671907.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 506,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638021.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490410.1",
"strand": false,
"transcript": "ENST00000638021.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330495.2",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317424.1",
"strand": false,
"transcript": "NM_001330495.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5412,
"cdna_start": 2201,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369033.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355962.1",
"strand": false,
"transcript": "NM_001369033.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5168,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369034.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355963.1",
"strand": false,
"transcript": "NM_001369034.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4806,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369035.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355964.1",
"strand": false,
"transcript": "NM_001369035.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5490,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369036.1",
"gene_hgnc_id": 14561,
"gene_symbol": "ARHGEF9",
"hgvs_c": "c.1336_1338delTCCinsCCT",
"hgvs_p": "p.Ser446Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355965.1",
"strand": false,
"transcript": "NM_001369036.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 495,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5375,
"cdna_start": 2164,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
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}
]
}