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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: 16-30959153-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30959153&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30959153,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000262519.14",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "NM_014712.3",
"protein_id": "NP_055527.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": "ENST00000262519.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "ENST00000262519.14",
"protein_id": "ENSP00000262519.8",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": "NM_014712.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "ENST00000684162.1",
"protein_id": "ENSP00000507683.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "ENST00000710314.1",
"protein_id": "ENSP00000518195.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "ENST00000682768.1",
"protein_id": "ENSP00000508271.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 288,
"cds_start": 214,
"cds_end": null,
"cds_length": 869,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_005255723.1",
"protein_id": "XP_005255780.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 5935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_006721106.4",
"protein_id": "XP_006721169.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 5882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_017023909.2",
"protein_id": "XP_016879398.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 5952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_024450499.2",
"protein_id": "XP_024306267.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_047434962.1",
"protein_id": "XP_047290918.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_047434963.1",
"protein_id": "XP_047290919.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 1707,
"cds_start": 214,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 5804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs",
"transcript": "XM_047434964.1",
"protein_id": "XP_047290920.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 870,
"cds_start": 214,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"hgvs_c": "c.*3delA",
"hgvs_p": null,
"transcript": "ENST00000452917.3",
"protein_id": "ENSP00000391408.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 69,
"cds_start": -4,
"cds_end": null,
"cds_length": 211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SETD1A",
"gene_hgnc_id": 29010,
"dbsnp": "rs1555488653",
"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": 2.275,
"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": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262519.14",
"gene_symbol": "SETD1A",
"hgnc_id": 29010,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.214delA",
"hgvs_p": "p.Arg72fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}