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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: 15-43475576-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43475576&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43475576,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000382044.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "NM_001141980.3",
"protein_id": "NP_001135452.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1977,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 10369,
"mane_select": "ENST00000382044.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "ENST00000382044.9",
"protein_id": "ENSP00000371475.5",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 1977,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 10369,
"mane_select": "NM_001141980.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "ENST00000450115.6",
"protein_id": "ENSP00000393497.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 1975,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1059C>G",
"hgvs_p": "p.Asp353Glu",
"transcript": "ENST00000263801.7",
"protein_id": "ENSP00000263801.3",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 1972,
"cds_start": 1059,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 6346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "NM_001141979.3",
"protein_id": "NP_001135451.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1975,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5928,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 10363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1059C>G",
"hgvs_p": "p.Asp353Glu",
"transcript": "NM_005657.4",
"protein_id": "NP_005648.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 1972,
"cds_start": 1059,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "NM_001411050.1",
"protein_id": "NP_001397979.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1927,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5784,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 10591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "ENST00000382039.7",
"protein_id": "ENSP00000371470.3",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 1927,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5784,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "ENST00000413546.1",
"protein_id": "ENSP00000388028.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1074,
"cds_end": null,
"cds_length": 3100,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047432994.1",
"protein_id": "XP_047288950.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1977,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 10741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047432995.1",
"protein_id": "XP_047288951.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1977,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5934,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 10880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047432997.1",
"protein_id": "XP_047288953.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1917,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047432998.1",
"protein_id": "XP_047288954.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1867,
"cds_start": 1074,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 6949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu",
"transcript": "XM_047432999.1",
"protein_id": "XP_047288955.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 1083,
"cds_start": 1074,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "n.1187C>G",
"hgvs_p": null,
"transcript": "ENST00000572085.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "n.1698C>G",
"hgvs_p": null,
"transcript": "XR_007064488.1",
"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": 6185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"hgvs_c": "c.-1956C>G",
"hgvs_p": null,
"transcript": "NM_001355001.2",
"protein_id": "NP_001341930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1017,
"cds_start": -4,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TP53BP1",
"gene_hgnc_id": 11999,
"dbsnp": "rs560191",
"frequency_reference_population": 0.33991596,
"hom_count_reference_population": 107421,
"allele_count_reference_population": 548313,
"gnomad_exomes_af": 0.327051,
"gnomad_genomes_af": 0.463464,
"gnomad_exomes_ac": 477809,
"gnomad_genomes_ac": 70504,
"gnomad_exomes_homalt": 86050,
"gnomad_genomes_homalt": 21371,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 5.580964170803782e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.167,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000382044.9",
"gene_symbol": "TP53BP1",
"hgnc_id": 11999,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1074C>G",
"hgvs_p": "p.Asp358Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}