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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: 1-233025206-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=233025206&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PCNX2",
"hgnc_id": 8736,
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Asn1515Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_014801.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 73,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "N",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7530,
"cdna_start": 4792,
"cds_end": null,
"cds_length": 6414,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_014801.4",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Asn1515Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258229.14",
"protein_coding": true,
"protein_id": "NP_055616.3",
"strand": false,
"transcript": "NM_014801.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "N",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7530,
"cdna_start": 4792,
"cds_end": null,
"cds_length": 6414,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000258229.14",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.4545C>T",
"hgvs_p": "p.Asn1515Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014801.4",
"protein_coding": true,
"protein_id": "ENSP00000258229.8",
"strand": false,
"transcript": "ENST00000258229.14",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2012,
"aa_ref": "N",
"aa_start": 1390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7157,
"cdna_start": 4421,
"cds_end": null,
"cds_length": 6039,
"cds_start": 4170,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000912675.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.4170C>T",
"hgvs_p": "p.Asn1390Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582734.1",
"strand": false,
"transcript": "ENST00000912675.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 777,
"aa_ref": "N",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 2334,
"cds_start": 501,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000344698.6",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Asn167Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340759.2",
"strand": false,
"transcript": "ENST00000344698.6",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2054,
"aa_ref": "N",
"aa_start": 1432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7231,
"cdna_start": 4493,
"cds_end": null,
"cds_length": 6165,
"cds_start": 4296,
"consequences": [
"synonymous_variant"
],
"exon_count": 34,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047430870.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.4296C>T",
"hgvs_p": "p.Asn1432Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286826.1",
"strand": false,
"transcript": "XM_047430870.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1934,
"aa_ref": "N",
"aa_start": 1312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6909,
"cdna_start": 4171,
"cds_end": null,
"cds_length": 5805,
"cds_start": 3936,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047430871.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.3936C>T",
"hgvs_p": "p.Asn1312Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286827.1",
"strand": false,
"transcript": "XM_047430871.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1395,
"aa_ref": "N",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 4188,
"cds_start": 2319,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011544278.3",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.2319C>T",
"hgvs_p": "p.Asn773Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542580.2",
"strand": false,
"transcript": "XM_011544278.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "N",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 3546,
"cds_start": 1677,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047430873.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.1677C>T",
"hgvs_p": "p.Asn559Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286829.1",
"strand": false,
"transcript": "XM_047430873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4754,
"cdna_start": null,
"cds_end": null,
"cds_length": 4407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430872.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "c.4352-8052C>T",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286828.1",
"strand": false,
"transcript": "XM_047430872.1",
"transcript_support_level": null
},
{
"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": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000522067.1",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "n.427C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000522067.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462233.5",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "n.1415-8052C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428488.1",
"strand": false,
"transcript": "ENST00000462233.5",
"transcript_support_level": 2
},
{
"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": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429988.2",
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"hgvs_c": "n.*57C>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": "ENST00000429988.2",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201941744",
"effect": "synonymous_variant",
"frequency_reference_population": 0.00004522885,
"gene_hgnc_id": 8736,
"gene_symbol": "PCNX2",
"gnomad_exomes_ac": 48,
"gnomad_exomes_af": 0.0000328385,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 25,
"gnomad_genomes_af": 0.000164135,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.177,
"pos": 233025206,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014801.4"
}
]
}