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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: 2-164497267-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164497267&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164497267,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000263915.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Leu",
"transcript": "NM_004490.3",
"protein_id": "NP_004481.2",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 540,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "ENST00000263915.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Leu",
"transcript": "ENST00000263915.8",
"protein_id": "ENSP00000263915.3",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 540,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "NM_004490.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1103G>T",
"hgvs_p": "p.Arg368Leu",
"transcript": "ENST00000446413.6",
"protein_id": "ENSP00000416786.2",
"transcript_support_level": 1,
"aa_start": 368,
"aa_end": null,
"aa_length": 414,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1247,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Arg326Leu",
"transcript": "NM_001303422.2",
"protein_id": "NP_001290351.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 453,
"cds_start": 977,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.977G>T",
"hgvs_p": "p.Arg326Leu",
"transcript": "ENST00000696453.2",
"protein_id": "ENSP00000512640.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 453,
"cds_start": 977,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.638G>T",
"hgvs_p": "p.Arg213Leu",
"transcript": "XM_047444013.1",
"protein_id": "XP_047299969.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 340,
"cds_start": 638,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 1975,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1374G>T",
"hgvs_p": null,
"transcript": "ENST00000488342.5",
"protein_id": null,
"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": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.-215G>T",
"hgvs_p": null,
"transcript": "ENST00000497306.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"dbsnp": "rs150619313",
"frequency_reference_population": 0.0000020534078,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205341,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.817329466342926,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7433,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.184,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000263915.8",
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Arg413Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}