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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: 17-44374686-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44374686&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44374686,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262407.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Pro972Pro",
"transcript": "NM_000419.5",
"protein_id": "NP_000410.2",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "ENST00000262407.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Pro972Pro",
"transcript": "ENST00000262407.6",
"protein_id": "ENSP00000262407.5",
"transcript_support_level": 1,
"aa_start": 972,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2916,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 3092,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": "NM_000419.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2346G>A",
"hgvs_p": "p.Pro782Pro",
"transcript": "ENST00000648408.1",
"protein_id": "ENSP00000498119.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 810,
"cds_start": 2346,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2347,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.3069G>A",
"hgvs_p": "p.Pro1023Pro",
"transcript": "XM_011524750.2",
"protein_id": "XP_011523052.2",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 3092,
"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.2427G>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+1147G>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
},
{
"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": 29,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"hgvs_c": "c.2995-216G>A",
"hgvs_p": null,
"transcript": "XM_011524749.2",
"protein_id": "XP_011523051.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGA2B",
"gene_hgnc_id": 6138,
"dbsnp": "rs5913",
"frequency_reference_population": 0.004570989,
"hom_count_reference_population": 26,
"allele_count_reference_population": 7377,
"gnomad_exomes_af": 0.00469529,
"gnomad_genomes_af": 0.00337718,
"gnomad_exomes_ac": 6863,
"gnomad_genomes_ac": 514,
"gnomad_exomes_homalt": 22,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.432,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP7,BA1,BP4",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP7",
"BA1",
"BP4"
],
"verdict": "Benign",
"transcript": "ENST00000262407.6",
"gene_symbol": "ITGA2B",
"hgnc_id": 6138,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Pro972Pro"
}
],
"clinvar_disease": "Glanzmann thrombasthenia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Glanzmann thrombasthenia|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}