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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: 16-31142823-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31142823&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31142823,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000268281.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "NM_173502.5",
"protein_id": "NP_775773.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 855,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": "ENST00000268281.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "ENST00000268281.9",
"protein_id": "ENSP00000268281.4",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 855,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": "NM_173502.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "ENST00000569305.1",
"protein_id": "ENSP00000454768.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 850,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "NM_001258290.2",
"protein_id": "NP_001245219.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 850,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2553,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "NM_001258291.2",
"protein_id": "NP_001245220.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 752,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "ENST00000418068.6",
"protein_id": "ENSP00000407160.2",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 752,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "XM_017022968.2",
"protein_id": "XP_016878457.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 761,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2286,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val",
"transcript": "XM_017022971.2",
"protein_id": "XP_016878460.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 621,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "n.1271C>T",
"hgvs_p": null,
"transcript": "ENST00000562368.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"hgvs_c": "n.36C>T",
"hgvs_p": null,
"transcript": "ENST00000563693.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRSS36",
"gene_hgnc_id": 26906,
"dbsnp": "rs767571013",
"frequency_reference_population": 0.0000021664184,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000216642,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06169375777244568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.43,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000268281.9",
"gene_symbol": "PRSS36",
"hgnc_id": 26906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271C>T",
"hgvs_p": "p.Ala424Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}