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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: 14-21431177-GCTGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21431177&ref=GCTGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21431177,
"ref": "GCTGA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000646647.2",
"consequences": [
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.463_466delTCAG",
"hgvs_p": "p.Ser155fs",
"transcript": "NM_001170629.2",
"protein_id": "NP_001164100.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 2581,
"cds_start": 463,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "ENST00000646647.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.463_466delTCAG",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000646647.2",
"protein_id": "ENSP00000495240.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 2581,
"cds_start": 463,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "NM_001170629.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6+630_6+633delTCAG",
"hgvs_p": null,
"transcript": "ENST00000430710.8",
"protein_id": "ENSP00000406288.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.463_466delTCAG",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000557364.6",
"protein_id": "ENSP00000451601.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 2581,
"cds_start": 463,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.463_466delTCAG",
"hgvs_p": "p.Ser155fs",
"transcript": "ENST00000643469.1",
"protein_id": "ENSP00000495070.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 2581,
"cds_start": 463,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.469_472delTCAG",
"hgvs_p": "p.Ser157fs",
"transcript": "ENST00000646340.1",
"protein_id": "ENSP00000496730.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1994,
"cds_start": 469,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.373_376delTCAG",
"hgvs_p": "p.Ser125fs",
"transcript": "ENST00000645140.1",
"protein_id": "ENSP00000493865.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 1101,
"cds_start": 373,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.550_553delTCAG",
"hgvs_p": "p.Ser184fs",
"transcript": "ENST00000646063.1",
"protein_id": "ENSP00000496565.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 585,
"cds_start": 550,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SA",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.388_391delTCAG",
"hgvs_p": "p.Ser130fs",
"transcript": "ENST00000553622.5",
"protein_id": "ENSP00000450957.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 150,
"cds_start": 388,
"cds_end": null,
"cds_length": 454,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 633,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.804_807delTCAG",
"hgvs_p": null,
"transcript": "ENST00000553651.2",
"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": 5583,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.758_761delTCAG",
"hgvs_p": null,
"transcript": "ENST00000643048.1",
"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": 2815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6+630_6+633delTCAG",
"hgvs_p": null,
"transcript": "NM_020920.4",
"protein_id": "NP_065971.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6+630_6+633delTCAG",
"hgvs_p": null,
"transcript": "ENST00000645929.1",
"protein_id": "ENSP00000494402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2302,
"cds_start": -4,
"cds_end": null,
"cds_length": 6909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.6+630_6+633delTCAG",
"hgvs_p": null,
"transcript": "ENST00000642518.1",
"protein_id": "ENSP00000496722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.345-1846_345-1843delTCAG",
"hgvs_p": null,
"transcript": "ENST00000553283.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.-111+630_-111+633delTCAG",
"hgvs_p": null,
"transcript": "ENST00000555962.6",
"protein_id": "ENSP00000495174.1",
"transcript_support_level": 5,
"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": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"dbsnp": "rs1555318633",
"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": 4.193,
"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": 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": "ENST00000646647.2",
"gene_symbol": "CHD8",
"hgnc_id": 20153,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.463_466delTCAG",
"hgvs_p": "p.Ser155fs"
}
],
"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
}