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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: 9-83663999-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83663999&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBQLN1",
"hgnc_id": 12508,
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_013438.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.0835,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17121672630310059,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_013438.5",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376395.9",
"protein_coding": true,
"protein_id": "NP_038466.2",
"strand": false,
"transcript": "NM_013438.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376395.9",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013438.5",
"protein_coding": true,
"protein_id": "ENSP00000365576.4",
"strand": false,
"transcript": "ENST00000376395.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 561,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000257468.11",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000257468.7",
"strand": false,
"transcript": "ENST00000257468.11",
"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": 6055,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000533705.5",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "n.3962C>T",
"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": "ENST00000533705.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 589,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4551,
"cdna_start": 1794,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858201.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528260.1",
"strand": false,
"transcript": "ENST00000858201.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "S",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1493,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858204.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1493C>T",
"hgvs_p": "p.Ser498Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528262.1",
"strand": false,
"transcript": "ENST00000858204.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "S",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3890,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1487,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858205.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1487C>T",
"hgvs_p": "p.Ser496Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528263.1",
"strand": false,
"transcript": "ENST00000858205.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 582,
"aa_ref": "S",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1763,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000858216.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1472C>T",
"hgvs_p": "p.Ser491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528275.1",
"strand": false,
"transcript": "ENST00000858216.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 561,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_053067.3",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444295.1",
"strand": false,
"transcript": "NM_053067.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 561,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949306.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619365.1",
"strand": false,
"transcript": "ENST00000949306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 559,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1409,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858221.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ser470Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528280.1",
"strand": false,
"transcript": "ENST00000858221.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 559,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2357,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1403,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949309.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1403C>T",
"hgvs_p": "p.Ser468Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619368.1",
"strand": false,
"transcript": "ENST00000949309.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 554,
"aa_ref": "S",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1388,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858227.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1388C>T",
"hgvs_p": "p.Ser463Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528286.1",
"strand": false,
"transcript": "ENST00000858227.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 536,
"aa_ref": "S",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949310.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1334C>T",
"hgvs_p": "p.Ser445Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619369.1",
"strand": false,
"transcript": "ENST00000949310.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 456,
"aa_ref": "S",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1371,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949308.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Ser365Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619367.1",
"strand": false,
"transcript": "ENST00000949308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1113,
"cds_start": 836,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858207.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.836C>T",
"hgvs_p": "p.Ser279Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528271.1",
"strand": false,
"transcript": "ENST00000858207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "S",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3203,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1080,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858206.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.803C>T",
"hgvs_p": "p.Ser268Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528265.1",
"strand": false,
"transcript": "ENST00000858206.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 342,
"aa_ref": "S",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1029,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858202.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Ser251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528261.1",
"strand": false,
"transcript": "ENST00000858202.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 331,
"aa_ref": "S",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2189,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 996,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949307.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ser240Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619366.1",
"strand": false,
"transcript": "ENST00000949307.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 205,
"aa_ref": "S",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 645,
"cds_end": null,
"cds_length": 618,
"cds_start": 341,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000858214.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528273.1",
"strand": false,
"transcript": "ENST00000858214.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 156,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 475,
"cdna_start": 313,
"cds_end": null,
"cds_length": 473,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526134.1",
"gene_hgnc_id": 12508,
"gene_symbol": "UBQLN1",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Ser104Leu",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000527373.1",
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}
],
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"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760239913",
"effect": "missense_variant",
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"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.134,
"pos": 83663999,
"ref": "G",
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"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
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}
]
}