← Back to variant description
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: 14-21402494-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21402494&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21402494,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000646647.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3724C>T",
"hgvs_p": "p.Arg1242*",
"transcript": "NM_001170629.2",
"protein_id": "NP_001164100.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 2581,
"cds_start": 3724,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "ENST00000646647.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3724C>T",
"hgvs_p": "p.Arg1242*",
"transcript": "ENST00000646647.2",
"protein_id": "ENSP00000495240.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 2581,
"cds_start": 3724,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 4031,
"cdna_end": null,
"cdna_length": 8467,
"mane_select": "NM_001170629.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.2887C>T",
"hgvs_p": "p.Arg963*",
"transcript": "ENST00000430710.8",
"protein_id": "ENSP00000406288.3",
"transcript_support_level": 1,
"aa_start": 963,
"aa_end": null,
"aa_length": 2302,
"cds_start": 2887,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 2981,
"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": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.-75C>T",
"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
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3724C>T",
"hgvs_p": "p.Arg1242*",
"transcript": "ENST00000557364.6",
"protein_id": "ENSP00000451601.1",
"transcript_support_level": 5,
"aa_start": 1242,
"aa_end": null,
"aa_length": 2581,
"cds_start": 3724,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3724C>T",
"hgvs_p": "p.Arg1242*",
"transcript": "ENST00000643469.1",
"protein_id": "ENSP00000495070.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 2581,
"cds_start": 3724,
"cds_end": null,
"cds_length": 7746,
"cdna_start": 4119,
"cdna_end": null,
"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.2887C>T",
"hgvs_p": "p.Arg963*",
"transcript": "NM_020920.4",
"protein_id": "NP_065971.2",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 2302,
"cds_start": 2887,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.2887C>T",
"hgvs_p": "p.Arg963*",
"transcript": "ENST00000645929.1",
"protein_id": "ENSP00000494402.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 2302,
"cds_start": 2887,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 2988,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.3730C>T",
"hgvs_p": "p.Arg1244*",
"transcript": "ENST00000646340.1",
"protein_id": "ENSP00000496730.1",
"transcript_support_level": null,
"aa_start": 1244,
"aa_end": null,
"aa_length": 1994,
"cds_start": 3730,
"cds_end": null,
"cds_length": 5985,
"cdna_start": 3889,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "c.1399C>T",
"hgvs_p": "p.Arg467*",
"transcript": "ENST00000555935.2",
"protein_id": "ENSP00000451442.2",
"transcript_support_level": 5,
"aa_start": 467,
"aa_end": null,
"aa_length": 1814,
"cds_start": 1399,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 1400,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.-75C>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.2238C>T",
"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": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD8",
"gene_hgnc_id": 20153,
"hgvs_c": "n.-75C>T",
"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": "rs1555314788",
"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": 0.10100000351667404,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.101,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.523,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646647.2",
"gene_symbol": "CHD8",
"hgnc_id": 20153,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3724C>T",
"hgvs_p": "p.Arg1242*"
}
],
"clinvar_disease": "Intellectual developmental disorder with autism and macrocephaly,Neurodevelopmental disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Intellectual developmental disorder with autism and macrocephaly|not provided|Neurodevelopmental disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}