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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: 19-29530033-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=29530033&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 29530033,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001146339.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln",
"transcript": "NM_001146339.2",
"protein_id": "NP_001139811.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 285,
"cds_start": 512,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335523.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146339.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln",
"transcript": "ENST00000335523.8",
"protein_id": "ENSP00000335038.6",
"transcript_support_level": 5,
"aa_start": 171,
"aa_end": null,
"aa_length": 285,
"cds_start": 512,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146339.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335523.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.584C>A",
"hgvs_p": "p.Pro195Gln",
"transcript": "ENST00000915703.1",
"protein_id": "ENSP00000585762.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 309,
"cds_start": 584,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915703.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"transcript": "ENST00000952478.1",
"protein_id": "ENSP00000622537.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 307,
"cds_start": 578,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952478.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln",
"transcript": "ENST00000883793.1",
"protein_id": "ENSP00000553852.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 285,
"cds_start": 512,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883793.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln",
"transcript": "ENST00000915702.1",
"protein_id": "ENSP00000585761.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 285,
"cds_start": 512,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915702.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "NM_001384640.1",
"protein_id": "NP_001371569.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384640.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "ENST00000883792.1",
"protein_id": "ENSP00000553851.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883792.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "ENST00000915704.1",
"protein_id": "ENSP00000585763.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915704.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "ENST00000952476.1",
"protein_id": "ENSP00000622535.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952476.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "ENST00000952477.1",
"protein_id": "ENSP00000622536.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952477.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Pro125Gln",
"transcript": "NM_001384641.1",
"protein_id": "NP_001371570.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 239,
"cds_start": 374,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384641.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.344C>A",
"hgvs_p": "p.Pro115Gln",
"transcript": "NM_001384642.1",
"protein_id": "NP_001371571.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 229,
"cds_start": 344,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384642.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.248C>A",
"hgvs_p": "p.Pro83Gln",
"transcript": "NM_001384643.1",
"protein_id": "NP_001371572.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 197,
"cds_start": 248,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384643.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln",
"transcript": "XM_011526902.3",
"protein_id": "XP_011525204.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 285,
"cds_start": 512,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526902.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161Gln",
"transcript": "XM_011526903.3",
"protein_id": "XP_011525205.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 275,
"cds_start": 482,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526903.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"hgvs_c": "c.320C>A",
"hgvs_p": "p.Pro107Gln",
"transcript": "XM_011526905.3",
"protein_id": "XP_011525207.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 221,
"cds_start": 320,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526905.3"
}
],
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"dbsnp": "rs775005192",
"frequency_reference_population": 0.0000019631786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000145353,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33157795667648315,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1851,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.654,
"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_001146339.2",
"gene_symbol": "VSTM2B",
"hgnc_id": 33595,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.512C>A",
"hgvs_p": "p.Pro171Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}