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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: 17-47283389-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47283389&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47283389,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000559488.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Lys67Lys",
"transcript": "NM_000212.3",
"protein_id": "NP_000203.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 788,
"cds_start": 201,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": "ENST00000559488.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Lys67Lys",
"transcript": "ENST00000559488.7",
"protein_id": "ENSP00000452786.2",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 788,
"cds_start": 201,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": "NM_000212.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Lys67Lys",
"transcript": "ENST00000571680.1",
"protein_id": "ENSP00000461626.1",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 443,
"cds_start": 201,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259753",
"gene_hgnc_id": null,
"hgvs_c": "n.165G>A",
"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": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Lys67Lys",
"transcript": "ENST00000696963.1",
"protein_id": "ENSP00000513002.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 780,
"cds_start": 201,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 236,
"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.1013-3239C>T",
"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.890-3239C>T",
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EFCAB13-DT",
"gene_hgnc_id": 55338,
"hgvs_c": "n.283-3239C>T",
"hgvs_p": null,
"transcript": "ENST00000783728.1",
"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": 908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB3",
"gene_hgnc_id": 6156,
"dbsnp": "rs780479441",
"frequency_reference_population": 0.000032215816,
"hom_count_reference_population": 0,
"allele_count_reference_population": 52,
"gnomad_exomes_af": 0.0000342023,
"gnomad_genomes_af": 0.0000131385,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.028,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP7,BP4",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP7",
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000559488.7",
"gene_symbol": "ITGB3",
"hgnc_id": 6156,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.201G>A",
"hgvs_p": "p.Lys67Lys"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000560629.1",
"gene_symbol": "ENSG00000259753",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.165G>A",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000783715.1",
"gene_symbol": "EFCAB13-DT",
"hgnc_id": 55338,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.890-3239C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Glanzmann thrombasthenia,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not specified|Glanzmann thrombasthenia|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}