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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: 5-148424084-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148424084&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 148424084,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000340253.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "NM_205836.3",
"protein_id": "NP_995308.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": "ENST00000340253.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "ENST00000340253.10",
"protein_id": "ENSP00000342023.6",
"transcript_support_level": 5,
"aa_start": 569,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": "NM_205836.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "ENST00000394370.7",
"protein_id": "ENSP00000377895.3",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "ENST00000513826.1",
"protein_id": "ENSP00000426410.1",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 943,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "NM_030793.5",
"protein_id": "NP_110420.3",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "NM_001271723.2",
"protein_id": "NP_001258652.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 943,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "ENST00000296701.10",
"protein_id": "ENSP00000296701.6",
"transcript_support_level": 2,
"aa_start": 569,
"aa_end": null,
"aa_length": 943,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_024446223.2",
"protein_id": "XP_024301991.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1188,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_006714797.3",
"protein_id": "XP_006714860.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1146,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_047417784.1",
"protein_id": "XP_047273740.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1705,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_047417785.1",
"protein_id": "XP_047273741.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 994,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_047417786.1",
"protein_id": "XP_047273742.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 943,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Ile203Val",
"transcript": "XM_047417787.1",
"protein_id": "XP_047273743.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 822,
"cds_start": 607,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.505A>G",
"hgvs_p": "p.Ile169Val",
"transcript": "XM_047417788.1",
"protein_id": "XP_047273744.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 788,
"cds_start": 505,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val",
"transcript": "XM_047417789.1",
"protein_id": "XP_047273745.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 749,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "n.336A>G",
"hgvs_p": null,
"transcript": "ENST00000514832.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"dbsnp": "rs772345898",
"frequency_reference_population": 0.000011775176,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116329,
"gnomad_genomes_af": 0.0000131411,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018426090478897095,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.009,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000340253.10",
"gene_symbol": "FBXO38",
"hgnc_id": 28844,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Ile569Val"
}
],
"clinvar_disease": "Distal hereditary motor neuropathy type 2",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Distal hereditary motor neuropathy type 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}