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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-16845836-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=16845836&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "RBBP7",
"hgnc_id": 9890,
"hgvs_c": "c.1332dupA",
"hgvs_p": "p.Trp445fs",
"inheritance_mode": "XL",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001198719.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 9, X-linked,Spermatogenic failure",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I?",
"aa_end": null,
"aa_length": 425,
"aa_ref": "I",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1200,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_002893.4",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"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": "I?",
"aa_end": null,
"aa_length": 425,
"aa_ref": "I",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2281,
"cdna_start": 1509,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1200,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000380087.7",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"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": "I?",
"aa_end": null,
"aa_length": 469,
"aa_ref": "I",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2326,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1332,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001198719.2",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1332dupA",
"hgvs_p": "p.Trp445fs",
"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": "I?",
"aa_end": null,
"aa_length": 469,
"aa_ref": "I",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1332,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000380084.8",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1332dupA",
"hgvs_p": "p.Trp445fs",
"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": "I?",
"aa_end": null,
"aa_length": 456,
"aa_ref": "I",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1293,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967933.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1293dupA",
"hgvs_p": "p.Trp432fs",
"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": "I?",
"aa_end": null,
"aa_length": 443,
"aa_ref": "I",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1254,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967934.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1254dupA",
"hgvs_p": "p.Trp419fs",
"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": "I?",
"aa_end": null,
"aa_length": 435,
"aa_ref": "I",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1230,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919338.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1230dupA",
"hgvs_p": "p.Trp411fs",
"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": "I?",
"aa_end": null,
"aa_length": 433,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1224,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863748.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1224dupA",
"hgvs_p": "p.Trp409fs",
"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": "I?",
"aa_end": null,
"aa_length": 433,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1224,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919335.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1224dupA",
"hgvs_p": "p.Trp409fs",
"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": "I?",
"aa_end": null,
"aa_length": 433,
"aa_ref": "I",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1302,
"cds_start": 1224,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919337.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1224dupA",
"hgvs_p": "p.Trp409fs",
"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": "I?",
"aa_end": null,
"aa_length": 428,
"aa_ref": "I",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1209,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967939.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1209dupA",
"hgvs_p": "p.Trp404fs",
"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": "I?",
"aa_end": null,
"aa_length": 425,
"aa_ref": "I",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1200,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863745.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"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": "I?",
"aa_end": null,
"aa_length": 425,
"aa_ref": "I",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1278,
"cds_start": 1200,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919334.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1200dupA",
"hgvs_p": "p.Trp401fs",
"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": "I?",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1197,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863755.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1197dupA",
"hgvs_p": "p.Trp400fs",
"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": "I?",
"aa_end": null,
"aa_length": 421,
"aa_ref": "I",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1188,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863753.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1188dupA",
"hgvs_p": "p.Trp397fs",
"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": "I?",
"aa_end": null,
"aa_length": 416,
"aa_ref": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1173,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000404022.5",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1173dupA",
"hgvs_p": "p.Trp392fs",
"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": "I?",
"aa_end": null,
"aa_length": 416,
"aa_ref": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 1452,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1173,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863750.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1173dupA",
"hgvs_p": "p.Trp392fs",
"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": "I?",
"aa_end": null,
"aa_length": 413,
"aa_ref": "I",
"aa_start": 388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1164,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863752.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1164dupA",
"hgvs_p": "p.Trp389fs",
"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": "I?",
"aa_end": null,
"aa_length": 399,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1370,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1122,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000863751.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1122dupA",
"hgvs_p": "p.Trp375fs",
"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": "I?",
"aa_end": null,
"aa_length": 394,
"aa_ref": "I",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1107,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863746.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1107dupA",
"hgvs_p": "p.Trp370fs",
"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": "I?",
"aa_end": null,
"aa_length": 390,
"aa_ref": "I",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1173,
"cds_start": 1095,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000967938.1",
"gene_hgnc_id": 9890,
"gene_symbol": "RBBP7",
"hgvs_c": "c.1095dupA",
"hgvs_p": "p.Trp366fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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