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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: 21-28931273-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=28931273&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 28931273,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015565.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5120A>G",
"hgvs_p": "p.Lys1707Arg",
"transcript": "NM_015565.3",
"protein_id": "NP_056380.3",
"transcript_support_level": null,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361371.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015565.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5120A>G",
"hgvs_p": "p.Lys1707Arg",
"transcript": "ENST00000361371.10",
"protein_id": "ENSP00000354977.4",
"transcript_support_level": 1,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015565.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361371.10"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5258A>G",
"hgvs_p": "p.Lys1753Arg",
"transcript": "ENST00000614971.4",
"protein_id": "ENSP00000478783.1",
"transcript_support_level": 1,
"aa_start": 1753,
"aa_end": null,
"aa_length": 1812,
"cds_start": 5258,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614971.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5120A>G",
"hgvs_p": "p.Lys1707Arg",
"transcript": "ENST00000389194.7",
"protein_id": "ENSP00000373846.3",
"transcript_support_level": 1,
"aa_start": 1707,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5120,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389194.7"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5087A>G",
"hgvs_p": "p.Lys1696Arg",
"transcript": "ENST00000912878.1",
"protein_id": "ENSP00000582937.1",
"transcript_support_level": null,
"aa_start": 1696,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5087,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912878.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5078A>G",
"hgvs_p": "p.Lys1693Arg",
"transcript": "NM_001320766.2",
"protein_id": "NP_001307695.2",
"transcript_support_level": null,
"aa_start": 1693,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5078,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320766.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.5078A>G",
"hgvs_p": "p.Lys1693Arg",
"transcript": "ENST00000912877.1",
"protein_id": "ENSP00000582936.1",
"transcript_support_level": null,
"aa_start": 1693,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5078,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912877.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.4925A>G",
"hgvs_p": "p.Lys1642Arg",
"transcript": "ENST00000881243.1",
"protein_id": "ENSP00000551302.1",
"transcript_support_level": null,
"aa_start": 1642,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4925,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881243.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.4907A>G",
"hgvs_p": "p.Lys1636Arg",
"transcript": "ENST00000912879.1",
"protein_id": "ENSP00000582938.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1695,
"cds_start": 4907,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912879.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.4403A>G",
"hgvs_p": "p.Lys1468Arg",
"transcript": "XM_047440740.1",
"protein_id": "XP_047296696.1",
"transcript_support_level": null,
"aa_start": 1468,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4403,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440740.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.4253A>G",
"hgvs_p": "p.Lys1418Arg",
"transcript": "XM_047440741.1",
"protein_id": "XP_047296697.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4253,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440741.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.2987A>G",
"hgvs_p": "p.Lys996Arg",
"transcript": "XM_017028317.2",
"protein_id": "XP_016883806.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2987,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028317.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"hgvs_c": "c.2603A>G",
"hgvs_p": "p.Lys868Arg",
"transcript": "XM_047440742.1",
"protein_id": "XP_047296698.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 927,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440742.1"
}
],
"gene_symbol": "LTN1",
"gene_hgnc_id": 13082,
"dbsnp": "rs370873711",
"frequency_reference_population": 0.000036581027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000342313,
"gnomad_genomes_af": 0.0000591304,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40023350715637207,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1811,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.491,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015565.3",
"gene_symbol": "LTN1",
"hgnc_id": 13082,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.5120A>G",
"hgvs_p": "p.Lys1707Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}