← Back to variant description
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: 3-155116548-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=155116548&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 155116548,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000360490.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_007289.4",
"protein_id": "NP_009220.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": "ENST00000360490.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000360490.7",
"protein_id": "ENSP00000353679.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": "NM_007289.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000615825.2",
"protein_id": "ENSP00000478173.2",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 780,
"cds_start": 428,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000460393.6",
"protein_id": "ENSP00000418525.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000493237.5",
"protein_id": "ENSP00000417079.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_000902.5",
"protein_id": "NP_000893.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_001354642.2",
"protein_id": "NP_001341571.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_001354643.1",
"protein_id": "NP_001341572.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_007287.4",
"protein_id": "NP_009218.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 5640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "NM_007288.3",
"protein_id": "NP_009219.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 5818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000462745.5",
"protein_id": "ENSP00000419653.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000473730.6",
"protein_id": "ENSP00000420542.2",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000491026.6",
"protein_id": "ENSP00000418791.2",
"transcript_support_level": 4,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000492661.5",
"protein_id": "ENSP00000420389.1",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000675418.2",
"protein_id": "ENSP00000502021.2",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 5552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000680057.1",
"protein_id": "ENSP00000505211.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 5776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "ENST00000680282.1",
"protein_id": "ENSP00000505690.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "XM_006713647.5",
"protein_id": "XP_006713710.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 9007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "XM_011512856.3",
"protein_id": "XP_011511158.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "XM_011512857.3",
"protein_id": "XP_011511159.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 5814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr",
"transcript": "XM_047448157.1",
"protein_id": "XP_047304113.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 750,
"cds_start": 428,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 5658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"hgvs_c": "n.271G>A",
"hgvs_p": null,
"transcript": "ENST00000679362.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MME",
"gene_hgnc_id": 7154,
"dbsnp": "rs879255651",
"frequency_reference_population": 0.0000020585167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205852,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9716707468032837,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9969,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.776,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000360490.7",
"gene_symbol": "MME",
"hgnc_id": 7154,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AD,AR",
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Cys143Tyr"
}
],
"clinvar_disease": "Spinocerebellar ataxia 43",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spinocerebellar ataxia 43",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}