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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: 21-28931223-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=28931223&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 28931223,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015565.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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.5170G>A",
"hgvs_p": "p.Gly1724Ser",
"transcript": "NM_015565.3",
"protein_id": "NP_056380.3",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5170,
"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": "G",
"aa_alt": "S",
"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.5170G>A",
"hgvs_p": "p.Gly1724Ser",
"transcript": "ENST00000361371.10",
"protein_id": "ENSP00000354977.4",
"transcript_support_level": 1,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5170,
"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": "G",
"aa_alt": "S",
"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.5308G>A",
"hgvs_p": "p.Gly1770Ser",
"transcript": "ENST00000614971.4",
"protein_id": "ENSP00000478783.1",
"transcript_support_level": 1,
"aa_start": 1770,
"aa_end": null,
"aa_length": 1812,
"cds_start": 5308,
"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": "G",
"aa_alt": "S",
"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.5170G>A",
"hgvs_p": "p.Gly1724Ser",
"transcript": "ENST00000389194.7",
"protein_id": "ENSP00000373846.3",
"transcript_support_level": 1,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1766,
"cds_start": 5170,
"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": "G",
"aa_alt": "S",
"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.5137G>A",
"hgvs_p": "p.Gly1713Ser",
"transcript": "ENST00000912878.1",
"protein_id": "ENSP00000582937.1",
"transcript_support_level": null,
"aa_start": 1713,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5137,
"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": "G",
"aa_alt": "S",
"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.5128G>A",
"hgvs_p": "p.Gly1710Ser",
"transcript": "NM_001320766.2",
"protein_id": "NP_001307695.2",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5128,
"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": "G",
"aa_alt": "S",
"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.5128G>A",
"hgvs_p": "p.Gly1710Ser",
"transcript": "ENST00000912877.1",
"protein_id": "ENSP00000582936.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5128,
"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": "G",
"aa_alt": "S",
"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.4975G>A",
"hgvs_p": "p.Gly1659Ser",
"transcript": "ENST00000881243.1",
"protein_id": "ENSP00000551302.1",
"transcript_support_level": null,
"aa_start": 1659,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4975,
"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": "G",
"aa_alt": "S",
"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.4957G>A",
"hgvs_p": "p.Gly1653Ser",
"transcript": "ENST00000912879.1",
"protein_id": "ENSP00000582938.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1695,
"cds_start": 4957,
"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": "G",
"aa_alt": "S",
"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.4453G>A",
"hgvs_p": "p.Gly1485Ser",
"transcript": "XM_047440740.1",
"protein_id": "XP_047296696.1",
"transcript_support_level": null,
"aa_start": 1485,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4453,
"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": "G",
"aa_alt": "S",
"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.4303G>A",
"hgvs_p": "p.Gly1435Ser",
"transcript": "XM_047440741.1",
"protein_id": "XP_047296697.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1477,
"cds_start": 4303,
"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": "G",
"aa_alt": "S",
"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.3037G>A",
"hgvs_p": "p.Gly1013Ser",
"transcript": "XM_017028317.2",
"protein_id": "XP_016883806.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1055,
"cds_start": 3037,
"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": "G",
"aa_alt": "S",
"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.2653G>A",
"hgvs_p": "p.Gly885Ser",
"transcript": "XM_047440742.1",
"protein_id": "XP_047296698.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 927,
"cds_start": 2653,
"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": "rs777230492",
"frequency_reference_population": 0.000032852142,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000328521,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.298855721950531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.7068,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.633,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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.5170G>A",
"hgvs_p": "p.Gly1724Ser"
}
],
"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
}