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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: 16-58280361-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58280361&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 58280361,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001080492.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"transcript": "NM_001305173.2",
"protein_id": "NP_001292102.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 395,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000567164.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305173.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"transcript": "ENST00000567164.6",
"protein_id": "ENSP00000455024.1",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 395,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001305173.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567164.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP263",
"gene_hgnc_id": 25002,
"hgvs_c": "c.*584C>T",
"hgvs_p": null,
"transcript": "NM_014157.4",
"protein_id": "NP_054876.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219299.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014157.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP263",
"gene_hgnc_id": 25002,
"hgvs_c": "c.*584C>T",
"hgvs_p": null,
"transcript": "ENST00000219299.8",
"protein_id": "ENSP00000219299.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219299.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"transcript": "NM_001080492.2",
"protein_id": "NP_001073961.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 395,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080492.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile",
"transcript": "ENST00000219301.8",
"protein_id": "ENSP00000219301.4",
"transcript_support_level": 5,
"aa_start": 351,
"aa_end": null,
"aa_length": 395,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219301.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "NM_001305174.2",
"protein_id": "NP_001292103.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 296,
"cds_start": 754,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305174.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "ENST00000543437.5",
"protein_id": "ENSP00000437705.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 296,
"cds_start": 754,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543437.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Val173Ile",
"transcript": "XM_047433779.1",
"protein_id": "XP_047289735.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 217,
"cds_start": 517,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP263",
"gene_hgnc_id": 25002,
"hgvs_c": "c.*584C>T",
"hgvs_p": null,
"transcript": "ENST00000954260.1",
"protein_id": "ENSP00000624319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP263",
"gene_hgnc_id": 25002,
"hgvs_c": "c.*584C>T",
"hgvs_p": null,
"transcript": "NM_001142302.2",
"protein_id": "NP_001135774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142302.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP263",
"gene_hgnc_id": 25002,
"hgvs_c": "c.*584C>T",
"hgvs_p": null,
"transcript": "ENST00000443128.6",
"protein_id": "ENSP00000402588.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": null,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443128.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"hgvs_c": "c.*144G>A",
"hgvs_p": null,
"transcript": "ENST00000569079.1",
"protein_id": "ENSP00000455921.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569079.1"
}
],
"gene_symbol": "PRSS54",
"gene_hgnc_id": 26336,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.037157148122787476,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.218,
"revel_prediction": "Benign",
"alphamissense_score": 0.0689,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.314,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001080492.2",
"gene_symbol": "PRSS54",
"hgnc_id": 26336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Val351Ile"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014157.4",
"gene_symbol": "CFAP263",
"hgnc_id": 25002,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*584C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}