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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: 21-28931172-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=28931172&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "LTN1",
"hgnc_id": 13082,
"hgvs_c": "c.5220dupA",
"hgvs_p": "p.Phe1741fs",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015565.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1766,
"aa_ref": "K",
"aa_start": 1740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7677,
"cdna_start": 5292,
"cds_end": null,
"cds_length": 5301,
"cds_start": 5220,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_015565.3",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5220dupA",
"hgvs_p": "p.Phe1741fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361371.10",
"protein_coding": true,
"protein_id": "NP_056380.3",
"strand": false,
"transcript": "NM_015565.3",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1766,
"aa_ref": "K",
"aa_start": 1740,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7677,
"cdna_start": 5292,
"cds_end": null,
"cds_length": 5301,
"cds_start": 5220,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000361371.10",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5220dupA",
"hgvs_p": "p.Phe1741fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015565.3",
"protein_coding": true,
"protein_id": "ENSP00000354977.4",
"strand": false,
"transcript": "ENST00000361371.10",
"transcript_support_level": 1
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "K",
"aa_start": 1786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7756,
"cdna_start": 5371,
"cds_end": null,
"cds_length": 5439,
"cds_start": 5358,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000614971.4",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5358dupA",
"hgvs_p": "p.Phe1787fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478783.1",
"strand": false,
"transcript": "ENST00000614971.4",
"transcript_support_level": 1
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1766,
"aa_ref": "K",
"aa_start": 1740,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7749,
"cdna_start": 5364,
"cds_end": null,
"cds_length": 5301,
"cds_start": 5220,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000389194.7",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5220dupA",
"hgvs_p": "p.Phe1741fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373846.3",
"strand": false,
"transcript": "ENST00000389194.7",
"transcript_support_level": 1
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1755,
"aa_ref": "K",
"aa_start": 1729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7637,
"cdna_start": 5253,
"cds_end": null,
"cds_length": 5268,
"cds_start": 5187,
"consequences": [
"frameshift_variant"
],
"exon_count": 30,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000912878.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5187dupA",
"hgvs_p": "p.Phe1730fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582937.1",
"strand": false,
"transcript": "ENST00000912878.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "K",
"aa_start": 1726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7635,
"cdna_start": 5250,
"cds_end": null,
"cds_length": 5259,
"cds_start": 5178,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001320766.2",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5178dupA",
"hgvs_p": "p.Phe1727fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307695.2",
"strand": false,
"transcript": "NM_001320766.2",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1752,
"aa_ref": "K",
"aa_start": 1726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 5246,
"cds_end": null,
"cds_length": 5259,
"cds_start": 5178,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000912877.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5178dupA",
"hgvs_p": "p.Phe1727fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582936.1",
"strand": false,
"transcript": "ENST00000912877.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "K",
"aa_start": 1675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7457,
"cdna_start": 5072,
"cds_end": null,
"cds_length": 5106,
"cds_start": 5025,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000881243.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5025dupA",
"hgvs_p": "p.Phe1676fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551302.1",
"strand": false,
"transcript": "ENST00000881243.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1695,
"aa_ref": "K",
"aa_start": 1669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7413,
"cdna_start": 5035,
"cds_end": null,
"cds_length": 5088,
"cds_start": 5007,
"consequences": [
"frameshift_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000912879.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.5007dupA",
"hgvs_p": "p.Phe1670fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582938.1",
"strand": false,
"transcript": "ENST00000912879.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "K",
"aa_start": 1501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11937,
"cdna_start": 9552,
"cds_end": null,
"cds_length": 4584,
"cds_start": 4503,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047440740.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.4503dupA",
"hgvs_p": "p.Phe1502fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296696.1",
"strand": false,
"transcript": "XM_047440740.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "K",
"aa_start": 1451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6817,
"cdna_start": 4432,
"cds_end": null,
"cds_length": 4434,
"cds_start": 4353,
"consequences": [
"frameshift_variant"
],
"exon_count": 25,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047440741.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.4353dupA",
"hgvs_p": "p.Phe1452fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296697.1",
"strand": false,
"transcript": "XM_047440741.1",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "K",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6714,
"cdna_start": 4329,
"cds_end": null,
"cds_length": 3168,
"cds_start": 3087,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017028317.2",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.3087dupA",
"hgvs_p": "p.Phe1030fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016883806.1",
"strand": false,
"transcript": "XM_017028317.2",
"transcript_support_level": null
},
{
"aa_alt": "K?",
"aa_end": null,
"aa_length": 927,
"aa_ref": "K",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10213,
"cdna_start": 7828,
"cds_end": null,
"cds_length": 2784,
"cds_start": 2703,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047440742.1",
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"hgvs_c": "c.2703dupA",
"hgvs_p": "p.Phe902fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296698.1",
"strand": false,
"transcript": "XM_047440742.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1389074071",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000006585099,
"gene_hgnc_id": 13082,
"gene_symbol": "LTN1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.0000065851,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.657,
"pos": 28931172,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015565.3"
}
]
}