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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: 14-21393589-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21393589&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21393589,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000646647.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6206C>A",
"hgvs_p": "p.Ser2069*",
"transcript": "NM_001170629.2",
"protein_id": "NP_001164100.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2581,
"cds_start": 6206,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 6513,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "ENST00000646647.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6206C>A",
"hgvs_p": "p.Ser2069*",
"transcript": "ENST00000646647.2",
"protein_id": "ENSP00000495240.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2581,
"cds_start": 6206,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 6513,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "NM_001170629.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.5369C>A",
"hgvs_p": "p.Ser1790*",
"transcript": "ENST00000430710.8",
"protein_id": "ENSP00000406288.3",
"transcript_support_level": 1,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5369,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 5463,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6206C>A",
"hgvs_p": "p.Ser2069*",
"transcript": "ENST00000557364.6",
"protein_id": "ENSP00000451601.1",
"transcript_support_level": 5,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2581,
"cds_start": 6206,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 6504,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6206C>A",
"hgvs_p": "p.Ser2069*",
"transcript": "ENST00000643469.1",
"protein_id": "ENSP00000495070.1",
"transcript_support_level": null,
"aa_start": 2069,
"aa_end": null,
"aa_length": 2581,
"cds_start": 6206,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 6601,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.5369C>A",
"hgvs_p": "p.Ser1790*",
"transcript": "NM_020920.4",
"protein_id": "NP_065971.2",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5369,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 5493,
"cdna_end": null,
"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.5369C>A",
"hgvs_p": "p.Ser1790*",
"transcript": "ENST00000645929.1",
"protein_id": "ENSP00000494402.1",
"transcript_support_level": null,
"aa_start": 1790,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5369,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 5470,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3905C>A",
"hgvs_p": "p.Ser1302*",
"transcript": "ENST00000555935.2",
"protein_id": "ENSP00000451442.2",
"transcript_support_level": 5,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3905,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 3906,
"cdna_end": null,
"cdna_length": 5458,
"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": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.5362C>A",
"hgvs_p": null,
"transcript": "ENST00000645206.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7314,
"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": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.*227C>A",
"hgvs_p": null,
"transcript": "ENST00000646340.1",
"protein_id": "ENSP00000496730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1994,
"cds_start": -4,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6144,
"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": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.*82C>A",
"hgvs_p": null,
"transcript": "ENST00000555301.1",
"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": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"dbsnp": "rs200858701",
"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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"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": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.063,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000646647.2",
"gene_symbol": "CHD8",
"hgnc_id": 20153,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6206C>A",
"hgvs_p": "p.Ser2069*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}