← 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: 1-223803417-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=223803417&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TP53BP2",
"hgnc_id": 12000,
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Gln229Lys",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001031685.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 131289,
"alphamissense_prediction": null,
"alphamissense_score": 0.1648,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "TP53BP2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005319863557815552,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "Q",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 952,
"cds_end": null,
"cds_length": 3405,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001031685.3",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Gln229Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343537.12",
"protein_coding": true,
"protein_id": "NP_001026855.2",
"strand": false,
"transcript": "NM_001031685.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "Q",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 952,
"cds_end": null,
"cds_length": 3405,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000343537.12",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Gln229Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001031685.3",
"protein_coding": true,
"protein_id": "ENSP00000341957.7",
"strand": false,
"transcript": "ENST00000343537.12",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "Q",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4741,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 3018,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000391878.6",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Gln100Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375750.2",
"strand": false,
"transcript": "ENST00000391878.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "Q",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 950,
"cds_end": null,
"cds_length": 3399,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863548.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Gln227Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533607.1",
"strand": false,
"transcript": "ENST00000863548.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Q",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 956,
"cds_end": null,
"cds_length": 3357,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863547.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.685C>A",
"hgvs_p": "p.Gln229Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533606.1",
"strand": false,
"transcript": "ENST00000863547.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "Q",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4764,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 3018,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005426.3",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Gln100Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005417.1",
"strand": false,
"transcript": "NM_005426.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1125,
"aa_ref": "Q",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": 828,
"cds_end": null,
"cds_length": 3378,
"cds_start": 658,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047429498.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.658C>A",
"hgvs_p": "p.Gln220Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285454.1",
"strand": false,
"transcript": "XM_047429498.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1067,
"aa_ref": "Q",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 804,
"cds_end": null,
"cds_length": 3204,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011544268.3",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.484C>A",
"hgvs_p": "p.Gln162Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542570.1",
"strand": false,
"transcript": "XM_011544268.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "Q",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4012,
"cdna_start": 332,
"cds_end": null,
"cds_length": 3018,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011544269.3",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Gln100Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542571.1",
"strand": false,
"transcript": "XM_011544269.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": null,
"cds_end": null,
"cds_length": 700,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494100.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "c.414+791C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420225.1",
"strand": false,
"transcript": "ENST00000494100.1",
"transcript_support_level": 3
},
{
"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": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464172.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "n.-194C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000464172.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481128.1",
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"hgvs_c": "n.-87C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481128.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs34683843",
"effect": "missense_variant",
"frequency_reference_population": 0.08138178,
"gene_hgnc_id": 12000,
"gene_symbol": "TP53BP2",
"gnomad_exomes_ac": 122018,
"gnomad_exomes_af": 0.0835121,
"gnomad_exomes_homalt": 5584,
"gnomad_genomes_ac": 9271,
"gnomad_genomes_af": 0.0609269,
"gnomad_genomes_homalt": 378,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 5962,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "TP53BP2-related disorder",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.568,
"pos": 223803417,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.245,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001031685.3"
}
]
}