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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: 8-51453640-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=51453640&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 51453640,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144651.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "NM_144651.5",
"protein_id": "NP_653252.4",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": "ENST00000356297.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144651.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000356297.5",
"protein_id": "ENSP00000348645.4",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 4807,
"mane_select": "NM_144651.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356297.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000894552.1",
"protein_id": "ENSP00000564611.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1523,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4843,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894552.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.His352Gln",
"transcript": "ENST00000894549.1",
"protein_id": "ENSP00000564608.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1439,
"cds_start": 1056,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894549.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.His352Gln",
"transcript": "ENST00000894551.1",
"protein_id": "ENSP00000564610.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1439,
"cds_start": 1056,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 4648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894551.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000967845.1",
"protein_id": "ENSP00000637904.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1434,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4305,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967845.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000967844.1",
"protein_id": "ENSP00000637903.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1410,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967844.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000894550.1",
"protein_id": "ENSP00000564609.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 1374,
"cds_start": 1128,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894550.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.His280Gln",
"transcript": "ENST00000894548.1",
"protein_id": "ENSP00000564607.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1367,
"cds_start": 840,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894548.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.His256Gln",
"transcript": "ENST00000967847.1",
"protein_id": "ENSP00000637906.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1343,
"cds_start": 768,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967847.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.His280Gln",
"transcript": "ENST00000967846.1",
"protein_id": "ENSP00000637905.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1314,
"cds_start": 840,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967846.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "ENST00000967843.1",
"protein_id": "ENSP00000637902.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 761,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967843.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.His352Gln",
"transcript": "XM_047421364.1",
"protein_id": "XP_047277320.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1439,
"cds_start": 1056,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421364.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.His352Gln",
"transcript": "XM_047421365.1",
"protein_id": "XP_047277321.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 1439,
"cds_start": 1056,
"cds_end": null,
"cds_length": 4320,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421365.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.His280Gln",
"transcript": "XM_047421366.1",
"protein_id": "XP_047277322.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 1367,
"cds_start": 840,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421366.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.723C>A",
"hgvs_p": "p.His241Gln",
"transcript": "XM_011517458.3",
"protein_id": "XP_011515760.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1328,
"cds_start": 723,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517458.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.723C>A",
"hgvs_p": "p.His241Gln",
"transcript": "XM_017013041.2",
"protein_id": "XP_016868530.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1328,
"cds_start": 723,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013041.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.723C>A",
"hgvs_p": "p.His241Gln",
"transcript": "XM_047421367.1",
"protein_id": "XP_047277323.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 1328,
"cds_start": 723,
"cds_end": null,
"cds_length": 3987,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421367.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln",
"transcript": "XM_047421369.1",
"protein_id": "XP_047277325.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 757,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"hgvs_c": "n.1229C>A",
"hgvs_p": null,
"transcript": "XR_007060701.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060701.1"
}
],
"gene_symbol": "PXDNL",
"gene_hgnc_id": 26359,
"dbsnp": "rs6473599",
"frequency_reference_population": 6.841368e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84137e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11093634366989136,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.3777,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144651.5",
"gene_symbol": "PXDNL",
"hgnc_id": 26359,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1128C>A",
"hgvs_p": "p.His376Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}