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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: 19-29529912-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=29529912&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 29529912,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000335523.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"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.391G>C",
"hgvs_p": "p.Asp131His",
"transcript": "NM_001146339.2",
"protein_id": "NP_001139811.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 285,
"cds_start": 391,
"cds_end": null,
"cds_length": 858,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": "ENST00000335523.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.391G>C",
"hgvs_p": "p.Asp131His",
"transcript": "ENST00000335523.8",
"protein_id": "ENSP00000335038.6",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 285,
"cds_start": 391,
"cds_end": null,
"cds_length": 858,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": "NM_001146339.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.361G>C",
"hgvs_p": "p.Asp121His",
"transcript": "NM_001384640.1",
"protein_id": "NP_001371569.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 275,
"cds_start": 361,
"cds_end": null,
"cds_length": 828,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.253G>C",
"hgvs_p": "p.Asp85His",
"transcript": "NM_001384641.1",
"protein_id": "NP_001371570.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 239,
"cds_start": 253,
"cds_end": null,
"cds_length": 720,
"cdna_start": 549,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.223G>C",
"hgvs_p": "p.Asp75His",
"transcript": "NM_001384642.1",
"protein_id": "NP_001371571.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 229,
"cds_start": 223,
"cds_end": null,
"cds_length": 690,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.127G>C",
"hgvs_p": "p.Asp43His",
"transcript": "NM_001384643.1",
"protein_id": "NP_001371572.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 197,
"cds_start": 127,
"cds_end": null,
"cds_length": 594,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.391G>C",
"hgvs_p": "p.Asp131His",
"transcript": "XM_011526902.3",
"protein_id": "XP_011525204.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 285,
"cds_start": 391,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.361G>C",
"hgvs_p": "p.Asp121His",
"transcript": "XM_011526903.3",
"protein_id": "XP_011525205.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 275,
"cds_start": 361,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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.199G>C",
"hgvs_p": "p.Asp67His",
"transcript": "XM_011526905.3",
"protein_id": "XP_011525207.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 221,
"cds_start": 199,
"cds_end": null,
"cds_length": 666,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "VSTM2B",
"gene_hgnc_id": 33595,
"dbsnp": "rs1304892527",
"frequency_reference_population": 0.0000065686622,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656866,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7983744144439697,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.532,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8626,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.604,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000335523.8",
"gene_symbol": "VSTM2B",
"hgnc_id": 33595,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.391G>C",
"hgvs_p": "p.Asp131His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}