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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: 11-114522310-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=114522310&ref=G&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": "NXPE1",
"hgnc_id": 28527,
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001367953.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NXPE2",
"hgnc_id": 26331,
"hgvs_c": "c.-482-4313G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "XM_017017207.2",
"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": -0.72,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7200000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001395504.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534921.3",
"protein_coding": true,
"protein_id": "NP_001382433.1",
"strand": false,
"transcript": "NM_001395504.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4972,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000534921.3",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001395504.1",
"protein_coding": true,
"protein_id": "ENSP00000439503.2",
"strand": false,
"transcript": "ENST00000534921.3",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 405,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 1218,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000251921.6",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Ile292Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000251921.2",
"strand": false,
"transcript": "ENST00000251921.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000536271.5",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "n.1694C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000536271.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 573,
"aa_ref": "I",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1380,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000867475.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1380C>A",
"hgvs_p": "p.Ile460Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537534.1",
"strand": false,
"transcript": "ENST00000867475.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001367953.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354882.1",
"strand": false,
"transcript": "NM_001367953.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696071.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512373.1",
"strand": false,
"transcript": "ENST00000696071.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4900,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867473.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537532.1",
"strand": false,
"transcript": "ENST00000867473.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000867474.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537533.1",
"strand": false,
"transcript": "ENST00000867474.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867476.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537535.1",
"strand": false,
"transcript": "ENST00000867476.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 405,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1218,
"cds_start": 876,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_152315.5",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.876C>A",
"hgvs_p": "p.Ile292Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689528.2",
"strand": false,
"transcript": "NM_152315.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5730,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011542596.4",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540898.1",
"strand": false,
"transcript": "XM_011542596.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011542597.4",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540899.1",
"strand": false,
"transcript": "XM_011542597.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011542598.4",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540900.1",
"strand": false,
"transcript": "XM_011542598.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5559,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011542599.4",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011540901.1",
"strand": false,
"transcript": "XM_011542599.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 2256,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047426371.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282327.1",
"strand": false,
"transcript": "XM_047426371.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 547,
"aa_ref": "I",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5573,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1302,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426372.1",
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"hgvs_c": "c.1302C>A",
"hgvs_p": "p.Ile434Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282328.1",
"strand": false,
"transcript": "XM_047426372.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017207.2",
"gene_hgnc_id": 26331,
"gene_symbol": "NXPE2",
"hgvs_c": "c.-482-4313G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872696.1",
"strand": true,
"transcript": "XM_017017207.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 535,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4903,
"cdna_start": null,
"cds_end": null,
"cds_length": 1608,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017209.2",
"gene_hgnc_id": 26331,
"gene_symbol": "NXPE2",
"hgvs_c": "c.-482-4313G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872698.1",
"strand": true,
"transcript": "XM_017017209.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs116712555",
"effect": "synonymous_variant",
"frequency_reference_population": 6.8408434e-7,
"gene_hgnc_id": 28527,
"gene_symbol": "NXPE1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84084e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.851,
"pos": 114522310,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001367953.1"
}
]
}