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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: 1-234393668-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=234393668&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 234393668,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000040877.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4413C>A",
"hgvs_p": "p.Ile1471Ile",
"transcript": "NM_005646.4",
"protein_id": "NP_005637.3",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4413,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": "ENST00000040877.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4413C>A",
"hgvs_p": "p.Ile1471Ile",
"transcript": "ENST00000040877.2",
"protein_id": "ENSP00000040877.1",
"transcript_support_level": 1,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4413,
"cds_end": null,
"cds_length": 4866,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 5206,
"mane_select": "NM_005646.4",
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.998C>A",
"hgvs_p": null,
"transcript": "ENST00000462259.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4410C>A",
"hgvs_p": "p.Ile1470Ile",
"transcript": "XM_005273234.4",
"protein_id": "XP_005273291.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1620,
"cds_start": 4410,
"cds_end": null,
"cds_length": 4863,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4341C>A",
"hgvs_p": "p.Ile1447Ile",
"transcript": "XM_011544263.3",
"protein_id": "XP_011542565.1",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1597,
"cds_start": 4341,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4417,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.4338C>A",
"hgvs_p": "p.Ile1446Ile",
"transcript": "XM_047429060.1",
"protein_id": "XP_047285016.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4338,
"cds_end": null,
"cds_length": 4791,
"cdna_start": 4414,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.3045C>A",
"hgvs_p": "p.Ile1015Ile",
"transcript": "XM_047429080.1",
"protein_id": "XP_047285036.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3045,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3113,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.2184C>A",
"hgvs_p": "p.Ile728Ile",
"transcript": "XM_017002196.2",
"protein_id": "XP_016857685.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 878,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.2022C>A",
"hgvs_p": "p.Ile674Ile",
"transcript": "XM_047429097.1",
"protein_id": "XP_047285053.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 824,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 2815,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.2401C>A",
"hgvs_p": null,
"transcript": "ENST00000483404.5",
"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": 3082,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "n.378C>A",
"hgvs_p": null,
"transcript": "ENST00000496673.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"hgvs_c": "c.*80C>A",
"hgvs_p": null,
"transcript": "XM_047429061.1",
"protein_id": "XP_047285017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1386,
"cds_start": -4,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TARBP1",
"gene_hgnc_id": 11568,
"dbsnp": "rs752798421",
"frequency_reference_population": 0.0000065715976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.233,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000040877.2",
"gene_symbol": "TARBP1",
"hgnc_id": 11568,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4413C>A",
"hgvs_p": "p.Ile1471Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}