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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: 11-83184866-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83184866&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83184866,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001346413.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.5033C>G",
"hgvs_p": "p.Thr1678Arg",
"transcript": "NM_001346413.3",
"protein_id": "NP_001333342.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1686,
"cds_start": 5033,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690938.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346413.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.5033C>G",
"hgvs_p": "p.Thr1678Arg",
"transcript": "ENST00000690938.1",
"protein_id": "ENSP00000508500.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1686,
"cds_start": 5033,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346413.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690938.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.4640C>G",
"hgvs_p": "p.Thr1547Arg",
"transcript": "ENST00000298281.8",
"protein_id": "ENSP00000298281.4",
"transcript_support_level": 1,
"aa_start": 1547,
"aa_end": null,
"aa_length": 1555,
"cds_start": 4640,
"cds_end": null,
"cds_length": 4668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298281.8"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.5030C>G",
"hgvs_p": "p.Thr1677Arg",
"transcript": "NM_001346414.2",
"protein_id": "NP_001333343.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1685,
"cds_start": 5030,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346414.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.4655C>G",
"hgvs_p": "p.Thr1552Arg",
"transcript": "ENST00000932062.1",
"protein_id": "ENSP00000602121.1",
"transcript_support_level": null,
"aa_start": 1552,
"aa_end": null,
"aa_length": 1560,
"cds_start": 4655,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932062.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.4640C>G",
"hgvs_p": "p.Thr1547Arg",
"transcript": "NM_015885.4",
"protein_id": "NP_056969.2",
"transcript_support_level": null,
"aa_start": 1547,
"aa_end": null,
"aa_length": 1555,
"cds_start": 4640,
"cds_end": null,
"cds_length": 4668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015885.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"hgvs_c": "c.4637C>G",
"hgvs_p": "p.Thr1546Arg",
"transcript": "NM_001346415.2",
"protein_id": "NP_001333344.1",
"transcript_support_level": null,
"aa_start": 1546,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4637,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346415.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANKRD42-DT",
"gene_hgnc_id": 55590,
"hgvs_c": "n.512-13G>C",
"hgvs_p": null,
"transcript": "ENST00000529031.6",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000529031.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKRD42-DT",
"gene_hgnc_id": 55590,
"hgvs_c": "n.423-13G>C",
"hgvs_p": null,
"transcript": "ENST00000602381.3",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000602381.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ANKRD42-DT",
"gene_hgnc_id": 55590,
"hgvs_c": "n.393-722G>C",
"hgvs_p": null,
"transcript": "ENST00000781903.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000781903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKRD42-DT",
"gene_hgnc_id": 55590,
"hgvs_c": "n.318-13G>C",
"hgvs_p": null,
"transcript": "NR_149009.1",
"protein_id": null,
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_149009.1"
}
],
"gene_symbol": "PCF11",
"gene_hgnc_id": 30097,
"dbsnp": "rs964015247",
"frequency_reference_population": 0.000007652241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000776825,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13004502654075623,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.1653,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.88,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001346413.3",
"gene_symbol": "PCF11",
"hgnc_id": 30097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5033C>G",
"hgvs_p": "p.Thr1678Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000529031.6",
"gene_symbol": "ANKRD42-DT",
"hgnc_id": 55590,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.512-13G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}