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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: 17-44372391-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44372391&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44372391,
"ref": "CA",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000419.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3092delT",
"hgvs_p": "p.Leu1031fs",
"transcript": "NM_000419.5",
"protein_id": "NP_000410.2",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262407.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000419.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3092delT",
"hgvs_p": "p.Leu1031fs",
"transcript": "ENST00000262407.6",
"protein_id": "ENSP00000262407.5",
"transcript_support_level": 1,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1039,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000419.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262407.6"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2978delT",
"hgvs_p": "p.Leu993fs",
"transcript": "ENST00000901307.1",
"protein_id": "ENSP00000571366.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2978,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901307.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2975delT",
"hgvs_p": "p.Leu992fs",
"transcript": "ENST00000949677.1",
"protein_id": "ENSP00000619736.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949677.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2831delT",
"hgvs_p": "p.Leu944fs",
"transcript": "ENST00000901306.1",
"protein_id": "ENSP00000571365.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 952,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901306.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2405delT",
"hgvs_p": "p.Leu802fs",
"transcript": "ENST00000648408.1",
"protein_id": "ENSP00000498119.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 810,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648408.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.284delT",
"hgvs_p": "p.Leu95fs",
"transcript": "ENST00000587295.5",
"protein_id": "ENSP00000467269.1",
"transcript_support_level": 3,
"aa_start": 95,
"aa_end": null,
"aa_length": 103,
"cds_start": 284,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587295.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3143delT",
"hgvs_p": "p.Leu1048fs",
"transcript": "XM_011524749.2",
"protein_id": "XP_011523051.2",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1056,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524749.2"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3128delT",
"hgvs_p": "p.Leu1043fs",
"transcript": "XM_011524750.2",
"protein_id": "XP_011523052.2",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3128,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524750.2"
}
],
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"dbsnp": "rs2143417444",
"frequency_reference_population": 0.0000013681089,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.935,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM4,PP4_Strong,PM2_Supporting,PM3_Supporting",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM4",
"PP4_Strong",
"PM2_Supporting",
"PM3_Supporting"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000419.5",
"gene_symbol": "ITGA2B",
"hgnc_id": 6138,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3092delT",
"hgvs_p": "p.Leu1031fs"
}
],
"clinvar_disease": "Glanzmann thrombasthenia,Glanzmann thrombasthenia 1,Platelet-type bleeding disorder 16",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LP:3",
"phenotype_combined": "Glanzmann thrombasthenia|Glanzmann thrombasthenia 1|Platelet-type bleeding disorder 16;Glanzmann thrombasthenia 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}