← Back to variant description
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: 10-124484170-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124484170&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 124484170,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022126.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "NM_022126.4",
"protein_id": "NP_071409.3",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 270,
"cds_start": 157,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368842.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022126.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000368842.10",
"protein_id": "ENSP00000357835.5",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 270,
"cds_start": 157,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022126.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368842.10"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000368839.1",
"protein_id": "ENSP00000357832.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 210,
"cds_start": 157,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368839.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000890879.1",
"protein_id": "ENSP00000560938.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 308,
"cds_start": 157,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890879.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000890877.1",
"protein_id": "ENSP00000560936.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 294,
"cds_start": 157,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890877.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000890883.1",
"protein_id": "ENSP00000560942.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 282,
"cds_start": 157,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890883.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000934459.1",
"protein_id": "ENSP00000604518.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 268,
"cds_start": 157,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934459.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000890885.1",
"protein_id": "ENSP00000560944.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 255,
"cds_start": 157,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890885.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "NM_001318332.2",
"protein_id": "NP_001305261.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 212,
"cds_start": 157,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318332.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000392757.8",
"protein_id": "ENSP00000376512.4",
"transcript_support_level": 3,
"aa_start": 53,
"aa_end": null,
"aa_length": 212,
"cds_start": 157,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392757.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "NM_001167880.2",
"protein_id": "NP_001161352.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 210,
"cds_start": 157,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167880.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "NM_001318331.2",
"protein_id": "NP_001305260.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 187,
"cds_start": 157,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318331.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "ENST00000890881.1",
"protein_id": "ENSP00000560940.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 187,
"cds_start": 157,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890881.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "XM_017016509.2",
"protein_id": "XP_016871998.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 381,
"cds_start": 157,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016509.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "XM_005270026.4",
"protein_id": "XP_005270083.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 279,
"cds_start": 157,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270026.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "XM_024448122.1",
"protein_id": "XP_024303890.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 268,
"cds_start": 157,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448122.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg",
"transcript": "XM_011540058.4",
"protein_id": "XP_011538360.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 219,
"cds_start": 157,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540058.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "c.126-12791T>C",
"hgvs_p": null,
"transcript": "ENST00000890878.1",
"protein_id": "ENSP00000560937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"hgvs_c": "n.197T>C",
"hgvs_p": null,
"transcript": "XR_001747177.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001747177.3"
}
],
"gene_symbol": "LHPP",
"gene_hgnc_id": 30042,
"dbsnp": null,
"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": 0.9398517608642578,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.642,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.368,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_022126.4",
"gene_symbol": "LHPP",
"hgnc_id": 30042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.157T>C",
"hgvs_p": "p.Cys53Arg"
}
],
"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
}