← 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: 14-61457523-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61457523&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61457523,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000332981.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.1122A>C",
"hgvs_p": "p.Val374Val",
"transcript": "NM_006255.5",
"protein_id": "NP_006246.2",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 683,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": "ENST00000332981.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.1122A>C",
"hgvs_p": "p.Val374Val",
"transcript": "ENST00000332981.11",
"protein_id": "ENSP00000329127.5",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 683,
"cds_start": 1122,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": "NM_006255.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Val213Val",
"transcript": "ENST00000555082.6",
"protein_id": "ENSP00000450981.1",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 522,
"cds_start": 639,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Val213Val",
"transcript": "ENST00000557585.5",
"protein_id": "ENSP00000451930.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 223,
"cds_start": 639,
"cds_end": null,
"cds_length": 673,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.1419A>C",
"hgvs_p": "p.Val473Val",
"transcript": "XM_047431585.1",
"protein_id": "XP_047287541.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 782,
"cds_start": 1419,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.885A>C",
"hgvs_p": "p.Val295Val",
"transcript": "XM_011536954.4",
"protein_id": "XP_011535256.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 604,
"cds_start": 885,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 9076,
"cdna_end": null,
"cdna_length": 11151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.882A>C",
"hgvs_p": "p.Val294Val",
"transcript": "XM_011536955.2",
"protein_id": "XP_011535257.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 603,
"cds_start": 882,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 4087,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Val213Val",
"transcript": "XM_024449661.2",
"protein_id": "XP_024305429.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 522,
"cds_start": 639,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.639A>C",
"hgvs_p": "p.Val213Val",
"transcript": "XM_024449662.2",
"protein_id": "XP_024305430.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 522,
"cds_start": 639,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.1122A>C",
"hgvs_p": "p.Val374Val",
"transcript": "XM_047431586.1",
"protein_id": "XP_047287542.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 508,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.1122A>C",
"hgvs_p": "p.Val374Val",
"transcript": "XM_011536957.2",
"protein_id": "XP_011535259.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 489,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "n.423A>C",
"hgvs_p": null,
"transcript": "ENST00000553889.5",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "n.18A>C",
"hgvs_p": null,
"transcript": "ENST00000555604.1",
"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": 361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "n.402A>C",
"hgvs_p": null,
"transcript": "ENST00000557559.1",
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"hgvs_c": "c.-18-27979A>C",
"hgvs_p": null,
"transcript": "ENST00000555185.5",
"protein_id": "ENSP00000451871.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": -4,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRKCH",
"gene_hgnc_id": 9403,
"dbsnp": "rs2230501",
"frequency_reference_population": 0.018070206,
"hom_count_reference_population": 1583,
"allele_count_reference_population": 29166,
"gnomad_exomes_af": 0.0179994,
"gnomad_genomes_af": 0.0187501,
"gnomad_exomes_ac": 26311,
"gnomad_genomes_ac": 2855,
"gnomad_exomes_homalt": 1393,
"gnomad_genomes_homalt": 190,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.004,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000332981.11",
"gene_symbol": "PRKCH",
"hgnc_id": 9403,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1122A>C",
"hgvs_p": "p.Val374Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}