← 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: X-136511216-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136511216&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136511216,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014500.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "NM_014500.5",
"protein_id": "NP_055315.2",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000218364.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014500.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "ENST00000218364.5",
"protein_id": "ENSP00000218364.4",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014500.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000218364.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "ENST00000535601.5",
"protein_id": "ENSP00000442699.1",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535601.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000866998.1",
"protein_id": "ENSP00000537057.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 764,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866998.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1498G>A",
"hgvs_p": "p.Val500Ile",
"transcript": "ENST00000959450.1",
"protein_id": "ENSP00000629509.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 764,
"cds_start": 1498,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959450.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "NM_001163280.2",
"protein_id": "NP_001156752.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001163280.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "ENST00000866996.1",
"protein_id": "ENSP00000537055.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866996.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "ENST00000866997.1",
"protein_id": "ENSP00000537056.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866997.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile",
"transcript": "ENST00000928617.1",
"protein_id": "ENSP00000598676.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 755,
"cds_start": 1471,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928617.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Val487Ile",
"transcript": "ENST00000959451.1",
"protein_id": "ENSP00000629510.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 751,
"cds_start": 1459,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959451.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1441G>A",
"hgvs_p": "p.Val481Ile",
"transcript": "ENST00000959449.1",
"protein_id": "ENSP00000629508.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 745,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959449.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Ile",
"transcript": "ENST00000866995.1",
"protein_id": "ENSP00000537054.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 739,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866995.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Ile",
"transcript": "ENST00000866999.1",
"protein_id": "ENSP00000537058.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 739,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866999.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Ile",
"transcript": "ENST00000959448.1",
"protein_id": "ENSP00000629507.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 739,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959448.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Val471Ile",
"transcript": "ENST00000928616.1",
"protein_id": "ENSP00000598675.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 735,
"cds_start": 1411,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928616.1"
}
],
"gene_symbol": "HTATSF1",
"gene_hgnc_id": 5276,
"dbsnp": "rs765688071",
"frequency_reference_population": 0.00011684935,
"hom_count_reference_population": 44,
"allele_count_reference_population": 141,
"gnomad_exomes_af": 0.000110481,
"gnomad_genomes_af": 0.00017942,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02677944302558899,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.006,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.05,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.564,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014500.5",
"gene_symbol": "HTATSF1",
"hgnc_id": 5276,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Ile"
}
],
"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
}