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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: 6-32191414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32191414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32191414,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022107.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "NM_001276501.2",
"protein_id": "NP_001263430.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375040.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276501.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "ENST00000375040.8",
"protein_id": "ENSP00000364180.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276501.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375040.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "ENST00000375043.3",
"protein_id": "ENSP00000364183.3",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375043.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "NM_022107.3",
"protein_id": "NP_071390.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022107.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "ENST00000874270.1",
"protein_id": "ENSP00000544329.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874270.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly",
"transcript": "ENST00000874271.1",
"protein_id": "ENSP00000544330.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 160,
"cds_start": 435,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874271.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Gly142Gly",
"transcript": "ENST00000487761.5",
"protein_id": "ENSP00000436358.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 157,
"cds_start": 426,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487761.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.294G>A",
"hgvs_p": "p.Gly98Gly",
"transcript": "ENST00000934374.1",
"protein_id": "ENSP00000604433.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 113,
"cds_start": 294,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934374.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "c.*155G>A",
"hgvs_p": null,
"transcript": "ENST00000619085.1",
"protein_id": "ENSP00000478357.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619085.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "n.*247G>A",
"hgvs_p": null,
"transcript": "ENST00000472768.5",
"protein_id": "ENSP00000432714.1",
"transcript_support_level": 2,
"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": "ENST00000472768.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"hgvs_c": "n.*247G>A",
"hgvs_p": null,
"transcript": "ENST00000472768.5",
"protein_id": "ENSP00000432714.1",
"transcript_support_level": 2,
"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": "ENST00000472768.5"
}
],
"gene_symbol": "GPSM3",
"gene_hgnc_id": 13945,
"dbsnp": "rs145686781",
"frequency_reference_population": 0.0048067267,
"hom_count_reference_population": 82,
"allele_count_reference_population": 7660,
"gnomad_exomes_af": 0.00481333,
"gnomad_genomes_af": 0.00474419,
"gnomad_exomes_ac": 6938,
"gnomad_genomes_ac": 722,
"gnomad_exomes_homalt": 72,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.889,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022107.3",
"gene_symbol": "GPSM3",
"hgnc_id": 13945,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Gly145Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}