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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: X-112671126-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=112671126&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 112671126,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178175.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "NM_178175.4",
"protein_id": "NP_835469.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 220,
"cds_start": 265,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371968.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178175.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000371968.8",
"protein_id": "ENSP00000361036.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 220,
"cds_start": 265,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178175.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371968.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000864007.1",
"protein_id": "ENSP00000534066.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 220,
"cds_start": 265,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864007.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000864010.1",
"protein_id": "ENSP00000534070.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 220,
"cds_start": 265,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864010.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000922440.1",
"protein_id": "ENSP00000592499.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 220,
"cds_start": 265,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922440.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000864008.1",
"protein_id": "ENSP00000534067.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 187,
"cds_start": 265,
"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": "ENST00000864008.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000922441.1",
"protein_id": "ENSP00000592500.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 187,
"cds_start": 265,
"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": "ENST00000922441.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000922442.1",
"protein_id": "ENSP00000592501.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 187,
"cds_start": 265,
"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": "ENST00000922442.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "ENST00000922443.1",
"protein_id": "ENSP00000592502.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 187,
"cds_start": 265,
"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": "ENST00000922443.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "XM_011530943.3",
"protein_id": "XP_011529245.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 243,
"cds_start": 334,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530943.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "XM_017029485.2",
"protein_id": "XP_016884974.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 243,
"cds_start": 334,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029485.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "XM_047442082.1",
"protein_id": "XP_047298038.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 210,
"cds_start": 334,
"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": "XM_047442082.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"transcript": "XM_024452370.2",
"protein_id": "XP_024308138.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 197,
"cds_start": 334,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452370.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser",
"transcript": "XM_011530946.3",
"protein_id": "XP_011529248.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 187,
"cds_start": 265,
"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": "XM_011530946.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"hgvs_c": "n.226+8703G>A",
"hgvs_p": null,
"transcript": "ENST00000478229.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000478229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303644",
"gene_hgnc_id": null,
"hgvs_c": "n.221-9663C>T",
"hgvs_p": null,
"transcript": "ENST00000796231.1",
"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": "ENST00000796231.1"
}
],
"gene_symbol": "LHFPL1",
"gene_hgnc_id": 6587,
"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": 0.7815581560134888,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.414,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.411,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.855,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_178175.4",
"gene_symbol": "LHFPL1",
"hgnc_id": 6587,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Gly89Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796231.1",
"gene_symbol": "ENSG00000303644",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.221-9663C>T",
"hgvs_p": null
}
],
"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
}