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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: 17-47292411-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47292411&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47292411,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000559488.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.1533A>G",
"hgvs_p": "p.Glu511Glu",
"transcript": "NM_000212.3",
"protein_id": "NP_000203.2",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 788,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": "ENST00000559488.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.1533A>G",
"hgvs_p": "p.Glu511Glu",
"transcript": "ENST00000559488.7",
"protein_id": "ENSP00000452786.2",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 788,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": "NM_000212.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259753",
"gene_hgnc_id": null,
"hgvs_c": "n.1497A>G",
"hgvs_p": null,
"transcript": "ENST00000560629.1",
"protein_id": "ENSP00000456711.2",
"transcript_support_level": 2,
"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": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.1533A>G",
"hgvs_p": "p.Glu511Glu",
"transcript": "ENST00000696963.1",
"protein_id": "ENSP00000513002.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 780,
"cds_start": 1533,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.1013-12261T>C",
"hgvs_p": null,
"transcript": "ENST00000619646.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.890-12261T>C",
"hgvs_p": null,
"transcript": "ENST00000783715.1",
"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": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "n.*540A>G",
"hgvs_p": null,
"transcript": "ENST00000573377.1",
"protein_id": "ENSP00000465586.1",
"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": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"dbsnp": "rs4642",
"frequency_reference_population": 0.28907925,
"hom_count_reference_population": 67985,
"allele_count_reference_population": 466042,
"gnomad_exomes_af": 0.28937,
"gnomad_genomes_af": 0.286289,
"gnomad_exomes_ac": 422482,
"gnomad_genomes_ac": 43560,
"gnomad_exomes_homalt": 61592,
"gnomad_genomes_homalt": 6393,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.133,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BA1,BP4",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BA1",
"BP4"
],
"verdict": "Benign",
"transcript": "ENST00000559488.7",
"gene_symbol": "ITGB3",
"hgnc_id": 6156,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1533A>G",
"hgvs_p": "p.Glu511Glu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000560629.1",
"gene_symbol": "ENSG00000259753",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1497A>G",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000783715.1",
"gene_symbol": "EFCAB13-DT",
"hgnc_id": 55338,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.890-12261T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Glanzmann thrombasthenia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Glanzmann thrombasthenia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}