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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: 5-141051823-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141051823&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 141051823,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013340.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHB1",
"gene_hgnc_id": 8680,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_013340.4",
"protein_id": "NP_037472.2",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 818,
"cds_start": 353,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": "ENST00000306549.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013340.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHB1",
"gene_hgnc_id": 8680,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "ENST00000306549.6",
"protein_id": "ENSP00000307234.4",
"transcript_support_level": 6,
"aa_start": 118,
"aa_end": null,
"aa_length": 818,
"cds_start": 353,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": "NM_013340.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306549.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDHB@",
"gene_hgnc_id": 8679,
"hgvs_c": "n.141051823G>C",
"hgvs_p": null,
"transcript": null,
"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": null,
"feature": null
},
{
"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": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.480-5257C>G",
"hgvs_p": null,
"transcript": "ENST00000623109.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000623109.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.295-653C>G",
"hgvs_p": null,
"transcript": "ENST00000623741.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 500,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000623741.3"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.391-653C>G",
"hgvs_p": null,
"transcript": "ENST00000624139.4",
"protein_id": null,
"transcript_support_level": 3,
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000624139.4"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.350-653C>G",
"hgvs_p": null,
"transcript": "ENST00000624778.2",
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000624778.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.518+1661C>G",
"hgvs_p": null,
"transcript": "ENST00000718162.1",
"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": 878,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718162.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.708-653C>G",
"hgvs_p": null,
"transcript": "ENST00000718163.1",
"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": 1309,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718163.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.500-653C>G",
"hgvs_p": null,
"transcript": "ENST00000718164.1",
"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": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718164.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.159-653C>G",
"hgvs_p": null,
"transcript": "ENST00000718165.1",
"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": 760,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718165.1"
},
{
"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": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.177-5257C>G",
"hgvs_p": null,
"transcript": "ENST00000718166.1",
"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": 486,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718166.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.532-5257C>G",
"hgvs_p": null,
"transcript": "ENST00000718167.1",
"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": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718167.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.605-5257C>G",
"hgvs_p": null,
"transcript": "ENST00000718168.1",
"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": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718168.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.160+10588C>G",
"hgvs_p": null,
"transcript": "ENST00000718182.1",
"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": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718182.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.357+10588C>G",
"hgvs_p": null,
"transcript": "ENST00000718183.1",
"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": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000718183.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCDHB1-AS1",
"gene_hgnc_id": 56111,
"hgvs_c": "n.357-653C>G",
"hgvs_p": null,
"transcript": "NR_105056.2",
"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": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_105056.2"
}
],
"gene_symbol": "PCDHB1",
"gene_hgnc_id": 8680,
"dbsnp": "rs1168348895",
"frequency_reference_population": 0.000004336809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410429,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30881303548812866,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.2337,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.532,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013340.4",
"gene_symbol": "PCDHB1",
"hgnc_id": 8680,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "",
"gene_symbol": "PCDHB@",
"hgnc_id": 8679,
"effects": [
"intragenic_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.141051823G>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000624778.2",
"gene_symbol": "PCDHB1-AS1",
"hgnc_id": 56111,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.350-653C>G",
"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
}