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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: 6-42573783-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42573783&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42573783,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015255.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "NM_001363705.2",
"protein_id": "NP_001350634.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1755,
"cds_start": 128,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372901.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363705.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000372901.2",
"protein_id": "ENSP00000361992.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 1755,
"cds_start": 128,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363705.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372901.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000372899.6",
"protein_id": "ENSP00000361990.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 1755,
"cds_start": 128,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372899.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000372903.6",
"protein_id": "ENSP00000361994.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 439,
"cds_start": 128,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372903.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "NM_015255.3",
"protein_id": "NP_056070.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1755,
"cds_start": 128,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015255.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000910623.1",
"protein_id": "ENSP00000580682.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1754,
"cds_start": 128,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910623.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000910624.1",
"protein_id": "ENSP00000580683.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1754,
"cds_start": 128,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910624.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000910625.1",
"protein_id": "ENSP00000580684.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1754,
"cds_start": 128,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910625.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000964716.1",
"protein_id": "ENSP00000634775.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1717,
"cds_start": 128,
"cds_end": null,
"cds_length": 5154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964716.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000910626.1",
"protein_id": "ENSP00000580685.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1700,
"cds_start": 128,
"cds_end": null,
"cds_length": 5103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910626.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "ENST00000918155.1",
"protein_id": "ENSP00000588214.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1644,
"cds_start": 128,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918155.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "NM_001184801.2",
"protein_id": "NP_001171730.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 439,
"cds_start": 128,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184801.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Asp",
"transcript": "XM_011514438.3",
"protein_id": "XP_011512740.2",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 1782,
"cds_start": 209,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514438.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Asp",
"transcript": "XM_017010594.2",
"protein_id": "XP_016866083.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 1782,
"cds_start": 209,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010594.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Asp",
"transcript": "XM_047418493.1",
"protein_id": "XP_047274449.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 1708,
"cds_start": 209,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418493.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Asp",
"transcript": "XM_017010597.2",
"protein_id": "XP_016866086.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 1260,
"cds_start": 209,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010597.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.209C>A",
"hgvs_p": "p.Ala70Asp",
"transcript": "XM_047418494.1",
"protein_id": "XP_047274450.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 1206,
"cds_start": 209,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418494.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp",
"transcript": "XM_047418495.1",
"protein_id": "XP_047274451.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 539,
"cds_start": 128,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418495.1"
}
],
"gene_symbol": "UBR2",
"gene_hgnc_id": 21289,
"dbsnp": "rs139450403",
"frequency_reference_population": 0.0000018635137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137203,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6521046757698059,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8217,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.505,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015255.3",
"gene_symbol": "UBR2",
"hgnc_id": 21289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.128C>A",
"hgvs_p": "p.Ala43Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}