← Back to variant description
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: 12-9194196-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9194196&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9194196,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261336.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "NM_002864.3",
"protein_id": "NP_002855.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1482,
"cds_start": 1135,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "ENST00000261336.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "ENST00000261336.7",
"protein_id": "ENSP00000261336.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 1482,
"cds_start": 1135,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": "NM_002864.3",
"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": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "n.*853C>T",
"hgvs_p": null,
"transcript": "ENST00000535230.5",
"protein_id": "ENSP00000440811.1",
"transcript_support_level": 1,
"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": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "n.*853C>T",
"hgvs_p": null,
"transcript": "ENST00000535230.5",
"protein_id": "ENSP00000440811.1",
"transcript_support_level": 1,
"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": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "XM_017019763.2",
"protein_id": "XP_016875252.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1135,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 9020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "XM_017019764.2",
"protein_id": "XP_016875253.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1488,
"cds_start": 1135,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "XM_047429274.1",
"protein_id": "XP_047285230.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1417,
"cds_start": 1135,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 8771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Leu248Phe",
"transcript": "XM_024449111.1",
"protein_id": "XP_024304879.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 1268,
"cds_start": 742,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "XM_011520806.2",
"protein_id": "XP_011519108.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 1045,
"cds_start": 1135,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 3280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe",
"transcript": "XM_011520807.3",
"protein_id": "XP_011519109.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 831,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2628,
"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": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "n.1189C>T",
"hgvs_p": null,
"transcript": "XR_001748834.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*175G>A",
"hgvs_p": null,
"transcript": "XM_047428074.1",
"protein_id": "XP_047284030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.98+49123G>A",
"hgvs_p": null,
"transcript": "ENST00000838855.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.143+49123G>A",
"hgvs_p": null,
"transcript": "ENST00000838856.1",
"protein_id": null,
"transcript_support_level": null,
"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": 936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.142+46692G>A",
"hgvs_p": null,
"transcript": "ENST00000838857.1",
"protein_id": null,
"transcript_support_level": null,
"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": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.143-46089G>A",
"hgvs_p": null,
"transcript": "ENST00000838858.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*34-21080G>A",
"hgvs_p": null,
"transcript": "XM_017018685.2",
"protein_id": "XP_016874174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": -4,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"dbsnp": "rs12230214",
"frequency_reference_population": 0.0000013682867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136829,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05488729476928711,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.1177,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.419,
"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": "ENST00000261336.7",
"gene_symbol": "PZP",
"hgnc_id": 9750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Leu379Phe"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XM_047428074.1",
"gene_symbol": "KLRG1",
"hgnc_id": 6380,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*175G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000838855.1",
"gene_symbol": "LINC00987",
"hgnc_id": 48911,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.98+49123G>A",
"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
}