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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: 16-21267565-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21267565&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 21267565,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000572914.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "NM_001376256.1",
"protein_id": "NP_001363185.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": "ENST00000572914.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "ENST00000572914.2",
"protein_id": "ENSP00000461904.2",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1244,
"mane_select": "NM_001376256.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "ENST00000219599.8",
"protein_id": "ENSP00000219599.3",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1482,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.*302C>T",
"hgvs_p": null,
"transcript": "ENST00000574448.5",
"protein_id": "ENSP00000459982.1",
"transcript_support_level": 1,
"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": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.*302C>T",
"hgvs_p": null,
"transcript": "ENST00000574448.5",
"protein_id": "ENSP00000459982.1",
"transcript_support_level": 1,
"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": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "NM_001888.5",
"protein_id": "NP_001879.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val",
"transcript": "ENST00000543948.5",
"protein_id": "ENSP00000440227.1",
"transcript_support_level": 5,
"aa_start": 221,
"aa_end": null,
"aa_length": 314,
"cds_start": 662,
"cds_end": null,
"cds_length": 945,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Ala179Val",
"transcript": "ENST00000576703.5",
"protein_id": "ENSP00000460126.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 240,
"cds_start": 536,
"cds_end": null,
"cds_length": 724,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 874,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"hgvs_c": "n.629C>T",
"hgvs_p": null,
"transcript": "ENST00000571666.1",
"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": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRYM",
"gene_hgnc_id": 2418,
"dbsnp": "rs876657447",
"frequency_reference_population": 6.842407e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84241e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5864856243133545,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.408,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2258,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.115,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000572914.2",
"gene_symbol": "CRYM",
"hgnc_id": 2418,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.662C>T",
"hgvs_p": "p.Ala221Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}