← 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: 6-98899449-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=98899449&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 98899449,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001278716.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001278716.2",
"protein_id": "NP_001265645.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 8058,
"mane_select": "ENST00000369244.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000369244.7",
"protein_id": "ENSP00000358247.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 8058,
"mane_select": "NM_001278716.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000229971.2",
"protein_id": "ENSP00000229971.1",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_012160.5",
"protein_id": "NP_036292.2",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 7940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_017010726.2",
"protein_id": "XP_016866215.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 7940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_047418625.1",
"protein_id": "XP_047274581.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 621,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 14167,
"cdna_end": null,
"cdna_length": 20640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_005266930.4",
"protein_id": "XP_005266987.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 597,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 7986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_017010727.3",
"protein_id": "XP_016866216.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 597,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "XM_047418626.1",
"protein_id": "XP_047274582.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 597,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Arg137His",
"transcript": "XM_047418628.1",
"protein_id": "XP_047274584.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 379,
"cds_start": 410,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 7173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "n.1121G>A",
"hgvs_p": null,
"transcript": "NR_103836.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"hgvs_c": "n.1121G>A",
"hgvs_p": null,
"transcript": "NR_103837.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXL4",
"gene_hgnc_id": 13601,
"dbsnp": "rs756984960",
"frequency_reference_population": 0.000019212392,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000191592,
"gnomad_genomes_af": 0.0000197231,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3071248233318329,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.0891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.704,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001278716.2",
"gene_symbol": "FBXL4",
"hgnc_id": 13601,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His"
}
],
"clinvar_disease": "Mitochondrial DNA depletion syndrome 13,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 13|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}