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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-16845050-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16845050&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RBBP7",
"hgnc_id": 9890,
"hgvs_c": "c.1395G>A",
"hgvs_p": "p.Glu465Glu",
"inheritance_mode": "XL",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001198719.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_002893.4",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Glu421Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380087.7",
"protein_coding": true,
"protein_id": "NP_002884.1",
"strand": false,
"transcript": "NM_002893.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000380087.7",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Glu421Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002893.4",
"protein_coding": true,
"protein_id": "ENSP00000369427.3",
"strand": false,
"transcript": "ENST00000380087.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001198719.2",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1395G>A",
"hgvs_p": "p.Glu465Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185648.1",
"strand": false,
"transcript": "NM_001198719.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 469,
"aa_ref": "E",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1395,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000380084.8",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1395G>A",
"hgvs_p": "p.Glu465Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369424.4",
"strand": false,
"transcript": "ENST00000380084.8",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 456,
"aa_ref": "E",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1356,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000967933.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Glu452Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637992.1",
"strand": false,
"transcript": "ENST00000967933.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 443,
"aa_ref": "E",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1317,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967934.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Glu439Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637993.1",
"strand": false,
"transcript": "ENST00000967934.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 435,
"aa_ref": "E",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1293,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919338.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Glu431Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589397.1",
"strand": false,
"transcript": "ENST00000919338.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 433,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863748.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Glu429Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533807.1",
"strand": false,
"transcript": "ENST00000863748.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 433,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919335.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Glu429Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589394.1",
"strand": false,
"transcript": "ENST00000919335.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 433,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919337.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Glu429Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589396.1",
"strand": false,
"transcript": "ENST00000919337.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 428,
"aa_ref": "E",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1272,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967939.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Glu424Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637998.1",
"strand": false,
"transcript": "ENST00000967939.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863745.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Glu421Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533804.1",
"strand": false,
"transcript": "ENST00000863745.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 425,
"aa_ref": "E",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1263,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919334.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Glu421Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589393.1",
"strand": false,
"transcript": "ENST00000919334.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 424,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863755.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533814.1",
"strand": false,
"transcript": "ENST00000863755.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 421,
"aa_ref": "E",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1251,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863753.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1251G>A",
"hgvs_p": "p.Glu417Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533812.1",
"strand": false,
"transcript": "ENST00000863753.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 416,
"aa_ref": "E",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1236,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000404022.5",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Glu412Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386068.1",
"strand": false,
"transcript": "ENST00000404022.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 416,
"aa_ref": "E",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1236,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863750.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Glu412Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533809.1",
"strand": false,
"transcript": "ENST00000863750.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 413,
"aa_ref": "E",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1227,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863752.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1227G>A",
"hgvs_p": "p.Glu409Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533811.1",
"strand": false,
"transcript": "ENST00000863752.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 399,
"aa_ref": "E",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1185,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863751.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1185G>A",
"hgvs_p": "p.Glu395Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533810.1",
"strand": false,
"transcript": "ENST00000863751.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 394,
"aa_ref": "E",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1170,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863746.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1170G>A",
"hgvs_p": "p.Glu390Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533805.1",
"strand": false,
"transcript": "ENST00000863746.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 390,
"aa_ref": "E",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1158,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967938.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1158G>A",
"hgvs_p": "p.Glu386Glu",
"intron_rank": null,
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