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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: 9-132990934-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132990934&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 132990934,
"ref": "A",
"alt": "AC",
"effect": "frameshift_variant",
"transcript": "ENST00000372122.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.880dupC",
"hgvs_p": "p.His294fs",
"transcript": "NM_001377304.1",
"protein_id": "NP_001364233.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 330,
"cds_start": 881,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "ENST00000372122.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.880dupC",
"hgvs_p": "p.His294fs",
"transcript": "ENST00000372122.4",
"protein_id": "ENSP00000361195.1",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 330,
"cds_start": 881,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": "NM_001377304.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.880dupC",
"hgvs_p": "p.His294fs",
"transcript": "ENST00000339463.7",
"protein_id": "ENSP00000344782.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 330,
"cds_start": 881,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.976dupC",
"hgvs_p": "p.His326fs",
"transcript": "ENST00000636263.1",
"protein_id": "ENSP00000489646.1",
"transcript_support_level": 5,
"aa_start": 326,
"aa_end": null,
"aa_length": 362,
"cds_start": 977,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.946dupC",
"hgvs_p": "p.His316fs",
"transcript": "NM_001371908.1",
"protein_id": "NP_001358837.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 352,
"cds_start": 947,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.946dupC",
"hgvs_p": "p.His316fs",
"transcript": "ENST00000636137.1",
"protein_id": "ENSP00000490303.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 352,
"cds_start": 947,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.880dupC",
"hgvs_p": "p.His294fs",
"transcript": "NM_004188.8",
"protein_id": "NP_004179.3",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 330,
"cds_start": 881,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.742dupC",
"hgvs_p": "p.His248fs",
"transcript": "NM_001135031.2",
"protein_id": "NP_001128503.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 284,
"cds_start": 743,
"cds_end": null,
"cds_length": 855,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.742dupC",
"hgvs_p": "p.His248fs",
"transcript": "NM_001377305.1",
"protein_id": "NP_001364234.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 284,
"cds_start": 743,
"cds_end": null,
"cds_length": 855,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.742dupC",
"hgvs_p": "p.His248fs",
"transcript": "ENST00000372123.5",
"protein_id": "ENSP00000361196.1",
"transcript_support_level": 5,
"aa_start": 248,
"aa_end": null,
"aa_length": 284,
"cds_start": 743,
"cds_end": null,
"cds_length": 855,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.946dupC",
"hgvs_p": "p.His316fs",
"transcript": "XM_006717297.4",
"protein_id": "XP_006717360.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 352,
"cds_start": 947,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "n.1114dupC",
"hgvs_p": null,
"transcript": "XR_007061360.1",
"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": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"hgvs_c": "c.*177_*178insC",
"hgvs_p": null,
"transcript": "XM_047423942.1",
"protein_id": "XP_047279898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GFI1B",
"gene_hgnc_id": 4238,
"dbsnp": "rs397989794",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"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": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000372122.4",
"gene_symbol": "GFI1B",
"hgnc_id": 4238,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.880dupC",
"hgvs_p": "p.His294fs"
}
],
"clinvar_disease": "Platelet-type bleeding disorder 17,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided|Platelet-type bleeding disorder 17",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}