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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: 11-65636944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65636944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PCNX3",
"hgnc_id": 18760,
"hgvs_c": "c.6071C>T",
"hgvs_p": "p.Pro2024Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_032223.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 24,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1911,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.060219407081604004,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2034,
"aa_ref": "P",
"aa_start": 2024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7102,
"cdna_start": 6607,
"cds_end": null,
"cds_length": 6105,
"cds_start": 6071,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_032223.4",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6071C>T",
"hgvs_p": "p.Pro2024Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355703.4",
"protein_coding": true,
"protein_id": "NP_115599.2",
"strand": true,
"transcript": "NM_032223.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2034,
"aa_ref": "P",
"aa_start": 2024,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7102,
"cdna_start": 6607,
"cds_end": null,
"cds_length": 6105,
"cds_start": 6071,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000355703.4",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6071C>T",
"hgvs_p": "p.Pro2024Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032223.4",
"protein_coding": true,
"protein_id": "ENSP00000347931.3",
"strand": true,
"transcript": "ENST00000355703.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000439247.2",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "n.2743C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000439247.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "P",
"aa_start": 2037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7153,
"cdna_start": 6657,
"cds_end": null,
"cds_length": 6144,
"cds_start": 6110,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000913358.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6110C>T",
"hgvs_p": "p.Pro2037Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583417.1",
"strand": true,
"transcript": "ENST00000913358.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2046,
"aa_ref": "P",
"aa_start": 2036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 6655,
"cds_end": null,
"cds_length": 6141,
"cds_start": 6107,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000913354.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6107C>T",
"hgvs_p": "p.Pro2036Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583413.1",
"strand": true,
"transcript": "ENST00000913354.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "P",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7111,
"cdna_start": 6616,
"cds_end": null,
"cds_length": 6102,
"cds_start": 6068,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000913355.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6068C>T",
"hgvs_p": "p.Pro2023Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583414.1",
"strand": true,
"transcript": "ENST00000913355.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "P",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7102,
"cdna_start": 6607,
"cds_end": null,
"cds_length": 6102,
"cds_start": 6068,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000913359.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6068C>T",
"hgvs_p": "p.Pro2023Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583418.1",
"strand": true,
"transcript": "ENST00000913359.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2023,
"aa_ref": "P",
"aa_start": 2013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7002,
"cdna_start": 6507,
"cds_end": null,
"cds_length": 6072,
"cds_start": 6038,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000913361.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6038C>T",
"hgvs_p": "p.Pro2013Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583420.1",
"strand": true,
"transcript": "ENST00000913361.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2016,
"aa_ref": "P",
"aa_start": 2006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7034,
"cdna_start": 6544,
"cds_end": null,
"cds_length": 6051,
"cds_start": 6017,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000913360.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6017C>T",
"hgvs_p": "p.Pro2006Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583419.1",
"strand": true,
"transcript": "ENST00000913360.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2003,
"aa_ref": "P",
"aa_start": 1993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7021,
"cdna_start": 6526,
"cds_end": null,
"cds_length": 6012,
"cds_start": 5978,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000913356.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.5978C>T",
"hgvs_p": "p.Pro1993Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583415.1",
"strand": true,
"transcript": "ENST00000913356.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1946,
"aa_ref": "P",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6850,
"cdna_start": 6355,
"cds_end": null,
"cds_length": 5841,
"cds_start": 5807,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000913357.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.5807C>T",
"hgvs_p": "p.Pro1936Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583416.1",
"strand": true,
"transcript": "ENST00000913357.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1933,
"aa_ref": "P",
"aa_start": 1923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6821,
"cdna_start": 6326,
"cds_end": null,
"cds_length": 5802,
"cds_start": 5768,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000913353.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.5768C>T",
"hgvs_p": "p.Pro1923Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583412.1",
"strand": true,
"transcript": "ENST00000913353.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "P",
"aa_start": 2037,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7141,
"cdna_start": 6646,
"cds_end": null,
"cds_length": 6144,
"cds_start": 6110,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011545024.3",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6110C>T",
"hgvs_p": "p.Pro2037Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543326.1",
"strand": true,
"transcript": "XM_011545024.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2046,
"aa_ref": "P",
"aa_start": 2036,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7138,
"cdna_start": 6643,
"cds_end": null,
"cds_length": 6141,
"cds_start": 6107,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_005273987.6",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6107C>T",
"hgvs_p": "p.Pro2036Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274044.1",
"strand": true,
"transcript": "XM_005273987.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2041,
"aa_ref": "P",
"aa_start": 2031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7123,
"cdna_start": 6628,
"cds_end": null,
"cds_length": 6126,
"cds_start": 6092,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_006718549.5",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6092C>T",
"hgvs_p": "p.Pro2031Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006718612.1",
"strand": true,
"transcript": "XM_006718549.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2040,
"aa_ref": "P",
"aa_start": 2030,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7120,
"cdna_start": 6625,
"cds_end": null,
"cds_length": 6123,
"cds_start": 6089,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047426937.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6089C>T",
"hgvs_p": "p.Pro2030Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282893.1",
"strand": true,
"transcript": "XM_047426937.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "P",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7099,
"cdna_start": 6604,
"cds_end": null,
"cds_length": 6102,
"cds_start": 6068,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047426938.1",
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"hgvs_c": "c.6068C>T",
"hgvs_p": "p.Pro2023Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282894.1",
"strand": true,
"transcript": "XM_047426938.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs771442977",
"effect": "missense_variant",
"frequency_reference_population": 0.000016961681,
"gene_hgnc_id": 18760,
"gene_symbol": "PCNX3",
"gnomad_exomes_ac": 24,
"gnomad_exomes_af": 0.0000169617,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.422,
"pos": 65636944,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.101,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032223.4"
}
]
}