← Back to variant description
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: 17-44375704-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44375704&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44375704,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262407.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2614C>A",
"hgvs_p": "p.Leu872Met",
"transcript": "NM_000419.5",
"protein_id": "NP_000410.2",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "ENST00000262407.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2614C>A",
"hgvs_p": "p.Leu872Met",
"transcript": "ENST00000262407.6",
"protein_id": "ENSP00000262407.5",
"transcript_support_level": 1,
"aa_start": 872,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "NM_000419.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2044C>A",
"hgvs_p": "p.Leu682Met",
"transcript": "ENST00000648408.1",
"protein_id": "ENSP00000498119.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 810,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2767C>A",
"hgvs_p": "p.Leu923Met",
"transcript": "XM_011524749.2",
"protein_id": "XP_011523051.2",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1056,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2767C>A",
"hgvs_p": "p.Leu923Met",
"transcript": "XM_011524750.2",
"protein_id": "XP_011523052.2",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2790,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "n.1409C>A",
"hgvs_p": null,
"transcript": "ENST00000592462.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.252+129C>A",
"hgvs_p": null,
"transcript": "ENST00000587295.5",
"protein_id": "ENSP00000467269.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"dbsnp": "rs149468422",
"frequency_reference_population": 0.0012107575,
"hom_count_reference_population": 22,
"allele_count_reference_population": 1920,
"gnomad_exomes_af": 0.000696894,
"gnomad_genomes_af": 0.00604807,
"gnomad_exomes_ac": 999,
"gnomad_genomes_ac": 921,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 10,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004722118377685547,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.0952,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.253,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BS3,BA1,BP4",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BS3",
"BA1",
"BP4"
],
"verdict": "Benign",
"transcript": "ENST00000262407.6",
"gene_symbol": "ITGA2B",
"hgnc_id": 6138,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2614C>A",
"hgvs_p": "p.Leu872Met"
}
],
"clinvar_disease": "Glanzmann thrombasthenia,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "Glanzmann thrombasthenia|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}