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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: 17-39214825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39214825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39214825,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198993.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "NM_198993.5",
"protein_id": "NP_945344.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 411,
"cds_start": 809,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333461.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198993.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "ENST00000333461.6",
"protein_id": "ENSP00000327509.5",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 411,
"cds_start": 809,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198993.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333461.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000584501.1",
"protein_id": "ENSP00000463299.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "n.*160G>A",
"hgvs_p": null,
"transcript": "ENST00000584501.1",
"protein_id": "ENSP00000463299.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584501.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "ENST00000945426.1",
"protein_id": "ENSP00000615485.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 433,
"cds_start": 809,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945426.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "ENST00000925549.1",
"protein_id": "ENSP00000595608.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 416,
"cds_start": 809,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925549.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Gly202Glu",
"transcript": "ENST00000879293.1",
"protein_id": "ENSP00000549352.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 343,
"cds_start": 605,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879293.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Gly183Glu",
"transcript": "ENST00000945425.1",
"protein_id": "ENSP00000615484.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 322,
"cds_start": 548,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945425.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.383G>A",
"hgvs_p": "p.Gly128Glu",
"transcript": "NM_001351360.2",
"protein_id": "NP_001338289.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 269,
"cds_start": 383,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351360.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "XM_017024580.2",
"protein_id": "XP_016880069.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 416,
"cds_start": 809,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024580.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "XM_017024581.2",
"protein_id": "XP_016880070.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 361,
"cds_start": 809,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024581.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "XM_047435911.1",
"protein_id": "XP_047291867.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 331,
"cds_start": 809,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435911.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu",
"transcript": "XM_017024583.2",
"protein_id": "XP_016880072.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 284,
"cds_start": 809,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024583.2"
}
],
"gene_symbol": "STAC2",
"gene_hgnc_id": 23990,
"dbsnp": "rs149653307",
"frequency_reference_population": 0.000012391712,
"hom_count_reference_population": 1,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.00000478848,
"gnomad_genomes_af": 0.0000854476,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059661269187927246,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0856,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.565,
"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": "PP2,BP4_Strong",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_198993.5",
"gene_symbol": "STAC2",
"hgnc_id": 23990,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Gly270Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}