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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: 5-148433450-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148433450&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 148433450,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000340253.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Ala894Ser",
"transcript": "NM_205836.3",
"protein_id": "NP_995308.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": "ENST00000340253.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Ala894Ser",
"transcript": "ENST00000340253.10",
"protein_id": "ENSP00000342023.6",
"transcript_support_level": 5,
"aa_start": 894,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 4401,
"mane_select": "NM_205836.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2455G>T",
"hgvs_p": "p.Ala819Ser",
"transcript": "ENST00000394370.7",
"protein_id": "ENSP00000377895.3",
"transcript_support_level": 1,
"aa_start": 819,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Ala649Ser",
"transcript": "ENST00000513826.1",
"protein_id": "ENSP00000426410.1",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 943,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2455G>T",
"hgvs_p": "p.Ala819Ser",
"transcript": "NM_030793.5",
"protein_id": "NP_110420.3",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2600,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Ala649Ser",
"transcript": "NM_001271723.2",
"protein_id": "NP_001258652.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 943,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Ala649Ser",
"transcript": "ENST00000296701.10",
"protein_id": "ENSP00000296701.6",
"transcript_support_level": 2,
"aa_start": 649,
"aa_end": null,
"aa_length": 943,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Ala894Ser",
"transcript": "XM_024446223.2",
"protein_id": "XP_024301991.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2680,
"cds_end": null,
"cds_length": 3567,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2554G>T",
"hgvs_p": "p.Ala852Ser",
"transcript": "XM_006714797.3",
"protein_id": "XP_006714860.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2455G>T",
"hgvs_p": "p.Ala819Ser",
"transcript": "XM_047417784.1",
"protein_id": "XP_047273740.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2455,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 5243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Ala894Ser",
"transcript": "XM_047417785.1",
"protein_id": "XP_047273741.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 994,
"cds_start": 2680,
"cds_end": null,
"cds_length": 2985,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Ala649Ser",
"transcript": "XM_047417786.1",
"protein_id": "XP_047273742.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 943,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1582G>T",
"hgvs_p": "p.Ala528Ser",
"transcript": "XM_047417787.1",
"protein_id": "XP_047273743.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 822,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1480G>T",
"hgvs_p": "p.Ala494Ser",
"transcript": "XM_047417788.1",
"protein_id": "XP_047273744.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 788,
"cds_start": 1480,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1945G>T",
"hgvs_p": "p.Ala649Ser",
"transcript": "XM_047417789.1",
"protein_id": "XP_047273745.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 749,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2090,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "n.218G>T",
"hgvs_p": null,
"transcript": "ENST00000504447.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 1716,
"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": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "n.127G>T",
"hgvs_p": null,
"transcript": "ENST00000505399.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"dbsnp": "rs11949133",
"frequency_reference_population": 6.843699e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8437e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25690966844558716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.353,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000340253.10",
"gene_symbol": "FBXO38",
"hgnc_id": 28844,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2680G>T",
"hgvs_p": "p.Ala894Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}