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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: 6-42606605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42606605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UBR2",
"hgnc_id": 21289,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_015255.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000310435",
"hgnc_id": null,
"hgvs_c": "n.298-5987C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000849798.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.5051,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "6",
"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": 0.34497910737991333,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 5268,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001363705.2",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372901.2",
"protein_coding": true,
"protein_id": "NP_001350634.1",
"strand": true,
"transcript": "NM_001363705.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 5268,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372901.2",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363705.2",
"protein_coding": true,
"protein_id": "ENSP00000361992.1",
"strand": true,
"transcript": "ENST00000372901.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 5268,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372899.6",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361990.1",
"strand": true,
"transcript": "ENST00000372899.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1320,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372903.6",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361994.2",
"strand": true,
"transcript": "ENST00000372903.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 5268,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015255.3",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056070.1",
"strand": true,
"transcript": "NM_015255.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7922,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5265,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910623.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580682.1",
"strand": true,
"transcript": "ENST00000910623.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7896,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 5265,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910624.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580683.1",
"strand": true,
"transcript": "ENST00000910624.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1754,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5699,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 5265,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910625.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580684.1",
"strand": true,
"transcript": "ENST00000910625.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "R",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5515,
"cdna_start": 956,
"cds_end": null,
"cds_length": 5154,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964716.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Arg235Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634775.1",
"strand": true,
"transcript": "ENST00000964716.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1700,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 5103,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910626.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580685.1",
"strand": true,
"transcript": "ENST00000910626.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 439,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1320,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001184801.2",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171730.1",
"strand": true,
"transcript": "NM_001184801.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8025,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 5349,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011514438.3",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512740.2",
"strand": true,
"transcript": "XM_011514438.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8025,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 5349,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017010594.2",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866083.1",
"strand": true,
"transcript": "XM_017010594.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1708,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6012,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 5127,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418493.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274449.1",
"strand": true,
"transcript": "XM_047418493.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 3783,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017010597.2",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866086.1",
"strand": true,
"transcript": "XM_017010597.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 3621,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418494.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274450.1",
"strand": true,
"transcript": "XM_047418494.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 539,
"aa_ref": "R",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 1620,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418495.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274451.1",
"strand": true,
"transcript": "XM_047418495.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7290,
"cdna_start": null,
"cds_end": null,
"cds_length": 4935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 44,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918155.1",
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"hgvs_c": "c.532-5566G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588214.1",
"strand": true,
"transcript": "ENST00000918155.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000849798.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000310435",
"hgvs_c": "n.298-5987C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000849798.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs752489829",
"effect": "missense_variant",
"frequency_reference_population": 0.000011666401,
"gene_hgnc_id": 21289,
"gene_symbol": "UBR2",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000116664,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.557,
"pos": 42606605,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.236,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_015255.3"
}
]
}