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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: 11-118898733-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118898733&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "BCL9L",
"hgnc_id": 23688,
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_182557.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 672907,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7598,
"cdna_start": 5001,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378213.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683865.1",
"protein_coding": true,
"protein_id": "NP_001365142.1",
"strand": false,
"transcript": "NM_001378213.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7598,
"cdna_start": 5001,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683865.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378213.1",
"protein_coding": true,
"protein_id": "ENSP00000507778.1",
"strand": false,
"transcript": "ENST00000683865.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10005,
"cdna_start": 5147,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000334801.7",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000335320.3",
"strand": false,
"transcript": "ENST00000334801.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7382,
"cdna_start": 4785,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_182557.4",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872363.1",
"strand": false,
"transcript": "NM_182557.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6833,
"cdna_start": 4379,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000913860.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583919.1",
"strand": false,
"transcript": "ENST00000913860.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7496,
"cdna_start": 4899,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4071,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001378214.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4071T>C",
"hgvs_p": "p.Pro1357Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365143.1",
"strand": false,
"transcript": "NM_001378214.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7442,
"cdna_start": 4845,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4071,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001437465.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4071T>C",
"hgvs_p": "p.Pro1357Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424394.1",
"strand": false,
"transcript": "NM_001437465.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 1357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5514,
"cdna_start": 4527,
"cds_end": null,
"cds_length": 4389,
"cds_start": 4071,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000526143.2",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4071T>C",
"hgvs_p": "p.Pro1357Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482938.1",
"strand": false,
"transcript": "ENST00000526143.2",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "P",
"aa_start": 1433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7272,
"cdna_start": 4675,
"cds_end": null,
"cds_length": 4617,
"cds_start": 4299,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047426800.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4299T>C",
"hgvs_p": "p.Pro1433Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282756.1",
"strand": false,
"transcript": "XM_047426800.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "P",
"aa_start": 1409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7703,
"cdna_start": 5106,
"cds_end": null,
"cds_length": 4545,
"cds_start": 4227,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011542756.3",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4227T>C",
"hgvs_p": "p.Pro1409Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011541058.1",
"strand": false,
"transcript": "XM_011542756.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "P",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7544,
"cdna_start": 4947,
"cds_end": null,
"cds_length": 4500,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_006718815.4",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "c.4182T>C",
"hgvs_p": "p.Pro1394Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718878.1",
"strand": false,
"transcript": "XM_006718815.4",
"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": 5152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_165445.1",
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"hgvs_c": "n.2555T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_165445.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs7104819",
"effect": "synonymous_variant",
"frequency_reference_population": 0.4172461,
"gene_hgnc_id": 23688,
"gene_symbol": "BCL9L",
"gnomad_exomes_ac": 599451,
"gnomad_exomes_af": 0.410418,
"gnomad_exomes_homalt": 126246,
"gnomad_genomes_ac": 73456,
"gnomad_genomes_af": 0.482799,
"gnomad_genomes_homalt": 18730,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 144976,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.646,
"pos": 118898733,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_182557.4"
}
]
}