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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: 7-12344213-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=12344213&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 12344213,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001135924.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.4060G>A",
"hgvs_p": "p.Gly1354Arg",
"transcript": "NM_001135924.3",
"protein_id": "NP_001129396.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000275358.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135924.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.4060G>A",
"hgvs_p": "p.Gly1354Arg",
"transcript": "ENST00000275358.8",
"protein_id": "ENSP00000275358.3",
"transcript_support_level": 5,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135924.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275358.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "n.*824G>A",
"hgvs_p": null,
"transcript": "ENST00000452576.6",
"protein_id": "ENSP00000401687.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452576.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "n.*824G>A",
"hgvs_p": null,
"transcript": "ENST00000452576.6",
"protein_id": "ENSP00000401687.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452576.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Arg",
"transcript": "NM_001346972.2",
"protein_id": "NP_001333901.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346972.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Gly1239Arg",
"transcript": "ENST00000941987.1",
"protein_id": "ENSP00000612046.1",
"transcript_support_level": null,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3715,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941987.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.3250G>A",
"hgvs_p": "p.Gly1084Arg",
"transcript": "NM_001346973.2",
"protein_id": "NP_001333902.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3250,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346973.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.232G>A",
"hgvs_p": "p.Gly78Arg",
"transcript": "ENST00000930527.1",
"protein_id": "ENSP00000600586.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 314,
"cds_start": 232,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "n.*2438G>A",
"hgvs_p": null,
"transcript": "ENST00000521169.5",
"protein_id": "ENSP00000428810.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521169.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "n.4882G>A",
"hgvs_p": null,
"transcript": "NR_144534.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144534.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "n.*2438G>A",
"hgvs_p": null,
"transcript": "ENST00000521169.5",
"protein_id": "ENSP00000428810.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521169.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"hgvs_c": "c.*161G>A",
"hgvs_p": null,
"transcript": "ENST00000649524.1",
"protein_id": "ENSP00000497705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649524.1"
}
],
"gene_symbol": "VWDE",
"gene_hgnc_id": 21897,
"dbsnp": "rs1343142618",
"frequency_reference_population": 0.000012254807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.000012871,
"gnomad_genomes_af": 0.00000658224,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9839217662811279,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.826,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001135924.3",
"gene_symbol": "VWDE",
"hgnc_id": 21897,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4060G>A",
"hgvs_p": "p.Gly1354Arg"
}
],
"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
}