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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: 5-148442051-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148442051&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXO38",
"hgnc_id": 28844,
"hgvs_c": "c.3471G>A",
"hgvs_p": "p.Met1157Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_205836.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.4675,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Distal hereditary motor neuropathy type 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09395268559455872,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "M",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 3616,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3471,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_205836.3",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3471G>A",
"hgvs_p": "p.Met1157Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340253.10",
"protein_coding": true,
"protein_id": "NP_995308.1",
"strand": true,
"transcript": "NM_205836.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "M",
"aa_start": 1157,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 3616,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3471,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000340253.10",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3471G>A",
"hgvs_p": "p.Met1157Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_205836.3",
"protein_coding": true,
"protein_id": "ENSP00000342023.6",
"strand": true,
"transcript": "ENST00000340253.10",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "M",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 3347,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3246,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000394370.7",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Met1082Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377895.3",
"strand": true,
"transcript": "ENST00000394370.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 943,
"aa_ref": "M",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2801,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2736,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000513826.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Met912Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426410.1",
"strand": true,
"transcript": "ENST00000513826.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "M",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 3619,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3474,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000851429.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3474G>A",
"hgvs_p": "p.Met1158Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521488.1",
"strand": true,
"transcript": "ENST00000851429.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "M",
"aa_start": 1138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 3571,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3414,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000851426.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3414G>A",
"hgvs_p": "p.Met1138Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521485.1",
"strand": true,
"transcript": "ENST00000851426.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "M",
"aa_start": 1115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 3505,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3345,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000851423.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3345G>A",
"hgvs_p": "p.Met1115Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521483.1",
"strand": true,
"transcript": "ENST00000851423.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "M",
"aa_start": 1111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 3449,
"cds_end": null,
"cds_length": 3429,
"cds_start": 3333,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949015.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3333G>A",
"hgvs_p": "p.Met1111Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619074.1",
"strand": true,
"transcript": "ENST00000949015.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "M",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3288,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949014.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3288G>A",
"hgvs_p": "p.Met1096Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619073.1",
"strand": true,
"transcript": "ENST00000949014.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "M",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 3418,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3276,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949013.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3276G>A",
"hgvs_p": "p.Met1092Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619072.1",
"strand": true,
"transcript": "ENST00000949013.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "M",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3249,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000851430.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Met1083Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521489.1",
"strand": true,
"transcript": "ENST00000851430.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "M",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": 3391,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3246,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_030793.5",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Met1082Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110420.3",
"strand": true,
"transcript": "NM_030793.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "M",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 3453,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3246,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000851420.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Met1082Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521480.1",
"strand": true,
"transcript": "ENST00000851420.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "M",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 3387,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3246,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000949010.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Met1082Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619069.1",
"strand": true,
"transcript": "ENST00000949010.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "M",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 3410,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3246,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000949016.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3246G>A",
"hgvs_p": "p.Met1082Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619075.1",
"strand": true,
"transcript": "ENST00000949016.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "M",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 3204,
"cds_end": null,
"cds_length": 3237,
"cds_start": 3141,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000928055.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3141G>A",
"hgvs_p": "p.Met1047Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598114.1",
"strand": true,
"transcript": "ENST00000928055.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "M",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 3072,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2916,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000949012.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2916G>A",
"hgvs_p": "p.Met972Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619071.1",
"strand": true,
"transcript": "ENST00000949012.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 943,
"aa_ref": "M",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001271723.2",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Met912Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258652.1",
"strand": true,
"transcript": "NM_001271723.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 943,
"aa_ref": "M",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2904,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2736,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000296701.10",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2736G>A",
"hgvs_p": "p.Met912Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000296701.6",
"strand": true,
"transcript": "ENST00000296701.10",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 924,
"aa_ref": "M",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2679,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000949011.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2679G>A",
"hgvs_p": "p.Met893Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619070.1",
"strand": true,
"transcript": "ENST00000949011.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 814,
"aa_ref": "M",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 2445,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2349,
"consequences": [
"missense_variant"
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