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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: 7-12343093-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=12343093&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "VWDE",
"hgnc_id": 21897,
"hgvs_c": "c.4164G>A",
"hgvs_p": "p.Arg1388Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001135924.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.27000001072883606,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1388,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": 4313,
"cds_end": null,
"cds_length": 4773,
"cds_start": 4164,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001135924.3",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.4164G>A",
"hgvs_p": "p.Arg1388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000275358.8",
"protein_coding": true,
"protein_id": "NP_001129396.1",
"strand": false,
"transcript": "NM_001135924.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1590,
"aa_ref": "R",
"aa_start": 1388,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": 4313,
"cds_end": null,
"cds_length": 4773,
"cds_start": 4164,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000275358.8",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.4164G>A",
"hgvs_p": "p.Arg1388Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001135924.3",
"protein_coding": true,
"protein_id": "ENSP00000275358.3",
"strand": false,
"transcript": "ENST00000275358.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000452576.6",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "n.*928G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401687.2",
"strand": false,
"transcript": "ENST00000452576.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000452576.6",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "n.*928G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401687.2",
"strand": false,
"transcript": "ENST00000452576.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 3968,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3819,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001346972.2",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.3819G>A",
"hgvs_p": "p.Arg1273Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333901.1",
"strand": false,
"transcript": "NM_001346972.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "R",
"aa_start": 1273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5604,
"cdna_start": 4013,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3819,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000941987.1",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.3819G>A",
"hgvs_p": "p.Arg1273Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612046.1",
"strand": false,
"transcript": "ENST00000941987.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "R",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 3886,
"cds_end": null,
"cds_length": 3963,
"cds_start": 3354,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001346973.2",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.3354G>A",
"hgvs_p": "p.Arg1118Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333902.1",
"strand": false,
"transcript": "NM_001346973.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 314,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 505,
"cds_end": null,
"cds_length": 945,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000930527.1",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "c.336G>A",
"hgvs_p": "p.Arg112Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600586.1",
"strand": false,
"transcript": "ENST00000930527.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000521169.5",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "n.*2542G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428810.1",
"strand": false,
"transcript": "ENST00000521169.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NR_144534.2",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "n.4986G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_144534.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000521169.5",
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"hgvs_c": "n.*2542G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428810.1",
"strand": false,
"transcript": "ENST00000521169.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1046831055",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000008392479,
"gene_hgnc_id": 21897,
"gene_symbol": "VWDE",
"gnomad_exomes_ac": 9,
"gnomad_exomes_af": 0.00000644285,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262971,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.981,
"pos": 12343093,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001135924.3"
}
]
}