← 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: 16-30981081-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30981081&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30981081,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000262519.14",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "NM_014712.3",
"protein_id": "NP_055527.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4942,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": "ENST00000262519.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "ENST00000262519.14",
"protein_id": "ENSP00000262519.8",
"transcript_support_level": 1,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4942,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": "NM_014712.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "ENST00000684162.1",
"protein_id": "ENSP00000507683.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4885,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "ENST00000710314.1",
"protein_id": "ENSP00000518195.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 5402,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_005255723.1",
"protein_id": "XP_005255780.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4886,
"cdna_end": null,
"cdna_length": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_006721106.4",
"protein_id": "XP_006721169.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4833,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_017023909.2",
"protein_id": "XP_016879398.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4903,
"cdna_end": null,
"cdna_length": 5952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_024450499.2",
"protein_id": "XP_024306267.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4763,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_047434962.1",
"protein_id": "XP_047290918.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4854,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs",
"transcript": "XM_047434963.1",
"protein_id": "XP_047290919.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4716,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 4755,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "n.*231delT",
"hgvs_p": null,
"transcript": "ENST00000640410.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"dbsnp": "rs1555491587",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 7.961,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262519.14",
"gene_symbol": "SETD1A",
"hgnc_id": 29010,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.4716delT",
"hgvs_p": "p.Phe1572fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}