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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: 11-65635544-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65635544&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65635544,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032223.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5200G>A",
"hgvs_p": "p.Val1734Met",
"transcript": "NM_032223.4",
"protein_id": "NP_115599.2",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 2034,
"cds_start": 5200,
"cds_end": null,
"cds_length": 6105,
"cdna_start": 5736,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": "ENST00000355703.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032223.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5200G>A",
"hgvs_p": "p.Val1734Met",
"transcript": "ENST00000355703.4",
"protein_id": "ENSP00000347931.3",
"transcript_support_level": 5,
"aa_start": 1734,
"aa_end": null,
"aa_length": 2034,
"cds_start": 5200,
"cds_end": null,
"cds_length": 6105,
"cdna_start": 5736,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": "NM_032223.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355703.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "n.1872G>A",
"hgvs_p": null,
"transcript": "ENST00000439247.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000439247.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5239G>A",
"hgvs_p": "p.Val1747Met",
"transcript": "ENST00000913358.1",
"protein_id": "ENSP00000583417.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 2047,
"cds_start": 5239,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 5786,
"cdna_end": null,
"cdna_length": 7153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913358.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5236G>A",
"hgvs_p": "p.Val1746Met",
"transcript": "ENST00000913354.1",
"protein_id": "ENSP00000583413.1",
"transcript_support_level": null,
"aa_start": 1746,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5236,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5784,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913354.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5197G>A",
"hgvs_p": "p.Val1733Met",
"transcript": "ENST00000913355.1",
"protein_id": "ENSP00000583414.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5197,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5745,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913355.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5197G>A",
"hgvs_p": "p.Val1733Met",
"transcript": "ENST00000913359.1",
"protein_id": "ENSP00000583418.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5197,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5736,
"cdna_end": null,
"cdna_length": 7102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913359.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5167G>A",
"hgvs_p": "p.Val1723Met",
"transcript": "ENST00000913361.1",
"protein_id": "ENSP00000583420.1",
"transcript_support_level": null,
"aa_start": 1723,
"aa_end": null,
"aa_length": 2023,
"cds_start": 5167,
"cds_end": null,
"cds_length": 6072,
"cdna_start": 5636,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913361.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5146G>A",
"hgvs_p": "p.Val1716Met",
"transcript": "ENST00000913360.1",
"protein_id": "ENSP00000583419.1",
"transcript_support_level": null,
"aa_start": 1716,
"aa_end": null,
"aa_length": 2016,
"cds_start": 5146,
"cds_end": null,
"cds_length": 6051,
"cdna_start": 5673,
"cdna_end": null,
"cdna_length": 7034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913360.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5107G>A",
"hgvs_p": "p.Val1703Met",
"transcript": "ENST00000913356.1",
"protein_id": "ENSP00000583415.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 2003,
"cds_start": 5107,
"cds_end": null,
"cds_length": 6012,
"cdna_start": 5655,
"cdna_end": null,
"cdna_length": 7021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913356.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.4936G>A",
"hgvs_p": "p.Val1646Met",
"transcript": "ENST00000913357.1",
"protein_id": "ENSP00000583416.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 1946,
"cds_start": 4936,
"cds_end": null,
"cds_length": 5841,
"cdna_start": 5484,
"cdna_end": null,
"cdna_length": 6850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913357.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.4897G>A",
"hgvs_p": "p.Val1633Met",
"transcript": "ENST00000913353.1",
"protein_id": "ENSP00000583412.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1933,
"cds_start": 4897,
"cds_end": null,
"cds_length": 5802,
"cdna_start": 5455,
"cdna_end": null,
"cdna_length": 6821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913353.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5239G>A",
"hgvs_p": "p.Val1747Met",
"transcript": "XM_011545024.3",
"protein_id": "XP_011543326.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 2047,
"cds_start": 5239,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 5775,
"cdna_end": null,
"cdna_length": 7141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545024.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5236G>A",
"hgvs_p": "p.Val1746Met",
"transcript": "XM_005273987.6",
"protein_id": "XP_005274044.1",
"transcript_support_level": null,
"aa_start": 1746,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5236,
"cds_end": null,
"cds_length": 6141,
"cdna_start": 5772,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273987.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5221G>A",
"hgvs_p": "p.Val1741Met",
"transcript": "XM_006718549.5",
"protein_id": "XP_006718612.1",
"transcript_support_level": null,
"aa_start": 1741,
"aa_end": null,
"aa_length": 2041,
"cds_start": 5221,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 5757,
"cdna_end": null,
"cdna_length": 7123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718549.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5218G>A",
"hgvs_p": "p.Val1740Met",
"transcript": "XM_047426937.1",
"protein_id": "XP_047282893.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 2040,
"cds_start": 5218,
"cds_end": null,
"cds_length": 6123,
"cdna_start": 5754,
"cdna_end": null,
"cdna_length": 7120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426937.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5197G>A",
"hgvs_p": "p.Val1733Met",
"transcript": "XM_047426938.1",
"protein_id": "XP_047282894.1",
"transcript_support_level": null,
"aa_start": 1733,
"aa_end": null,
"aa_length": 2033,
"cds_start": 5197,
"cds_end": null,
"cds_length": 6102,
"cdna_start": 5733,
"cdna_end": null,
"cdna_length": 7099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426938.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"hgvs_c": "c.5239G>A",
"hgvs_p": "p.Val1747Met",
"transcript": "XM_011545025.4",
"protein_id": "XP_011543327.1",
"transcript_support_level": null,
"aa_start": 1747,
"aa_end": null,
"aa_length": 1844,
"cds_start": 5239,
"cds_end": null,
"cds_length": 5535,
"cdna_start": 5775,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545025.4"
}
],
"gene_symbol": "PCNX3",
"gene_hgnc_id": 18760,
"dbsnp": "rs1331263112",
"frequency_reference_population": 0.0000018623199,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000137107,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9086431860923767,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.489,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9478,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.418,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032223.4",
"gene_symbol": "PCNX3",
"hgnc_id": 18760,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5200G>A",
"hgvs_p": "p.Val1734Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}