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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: 1-85270827-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=85270827&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 85270827,
"ref": "A",
"alt": "AT",
"effect": "frameshift_variant",
"transcript": "ENST00000648566.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.136dupA",
"hgvs_p": "p.Ile46fs",
"transcript": "NM_003921.5",
"protein_id": "NP_003912.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 233,
"cds_start": 136,
"cds_end": null,
"cds_length": 702,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000648566.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.136dupA",
"hgvs_p": "p.Ile46fs",
"transcript": "ENST00000648566.1",
"protein_id": "ENSP00000498104.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 233,
"cds_start": 136,
"cds_end": null,
"cds_length": 702,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_003921.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.136dupA",
"hgvs_p": "p.Ile46fs",
"transcript": "NM_001320715.2",
"protein_id": "NP_001307644.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 222,
"cds_start": 136,
"cds_end": null,
"cds_length": 669,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.136dupA",
"hgvs_p": "p.Ile46fs",
"transcript": "ENST00000620248.3",
"protein_id": "ENSP00000480561.2",
"transcript_support_level": 5,
"aa_start": 46,
"aa_end": null,
"aa_length": 222,
"cds_start": 136,
"cds_end": null,
"cds_length": 669,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.295dupA",
"hgvs_p": "p.Ile99fs",
"transcript": "XM_011542397.4",
"protein_id": "XP_011540699.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 286,
"cds_start": 295,
"cds_end": null,
"cds_length": 861,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.295dupA",
"hgvs_p": "p.Ile99fs",
"transcript": "XM_011542398.3",
"protein_id": "XP_011540700.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 275,
"cds_start": 295,
"cds_end": null,
"cds_length": 828,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "c.82dupA",
"hgvs_p": "p.Ile28fs",
"transcript": "XM_011542399.3",
"protein_id": "XP_011540701.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 215,
"cds_start": 82,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 3966,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "n.*1245dupA",
"hgvs_p": null,
"transcript": "ENST00000649060.1",
"protein_id": "ENSP00000497490.1",
"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": 1561,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "n.202dupA",
"hgvs_p": null,
"transcript": "ENST00000649434.1",
"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": 573,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "n.667dupA",
"hgvs_p": null,
"transcript": "ENST00000650582.1",
"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": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"hgvs_c": "n.*1245dupA",
"hgvs_p": null,
"transcript": "ENST00000649060.1",
"protein_id": "ENSP00000497490.1",
"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": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCL10",
"gene_hgnc_id": 989,
"dbsnp": "rs387906351",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.353,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000648566.1",
"gene_symbol": "BCL10",
"hgnc_id": 989,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.136dupA",
"hgvs_p": "p.Ile46fs"
}
],
"clinvar_disease": "Carcinoma of colon,T-cell acute lymphoblastic leukemia",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "T-cell acute lymphoblastic leukemia|Carcinoma of colon",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}