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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: 5-148442008-CA-TC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148442008&ref=CA&alt=TC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXO38",
"hgnc_id": 28844,
"hgvs_c": "c.3428_3429delCAinsTC",
"hgvs_p": "p.Ala1143Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_205836.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_205836.3",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3428_3429delCAinsTC",
"hgvs_p": "p.Ala1143Val",
"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": "V",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "A",
"aa_start": 1143,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3428,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340253.10",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3428_3429delCAinsTC",
"hgvs_p": "p.Ala1143Val",
"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": "V",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 3304,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394370.7",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3203_3204delCAinsTC",
"hgvs_p": "p.Ala1068Val",
"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": "V",
"aa_end": null,
"aa_length": 943,
"aa_ref": "A",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513826.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2693_2694delCAinsTC",
"hgvs_p": "p.Ala898Val",
"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": "V",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "A",
"aa_start": 1144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 3576,
"cds_end": null,
"cds_length": 3570,
"cds_start": 3431,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851429.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3431_3432delCAinsTC",
"hgvs_p": "p.Ala1144Val",
"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": "V",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "A",
"aa_start": 1124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 3528,
"cds_end": null,
"cds_length": 3510,
"cds_start": 3371,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851426.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3371_3372delCAinsTC",
"hgvs_p": "p.Ala1124Val",
"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": "V",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "A",
"aa_start": 1101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 3462,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3302,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851423.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3302_3303delCAinsTC",
"hgvs_p": "p.Ala1101Val",
"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": "V",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "A",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 3406,
"cds_end": null,
"cds_length": 3429,
"cds_start": 3290,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949015.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3290_3291delCAinsTC",
"hgvs_p": "p.Ala1097Val",
"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": "V",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "A",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 3387,
"cds_end": null,
"cds_length": 3384,
"cds_start": 3245,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949014.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3245_3246delCAinsTC",
"hgvs_p": "p.Ala1082Val",
"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": "V",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "A",
"aa_start": 1078,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 3375,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3233,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949013.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3233_3234delCAinsTC",
"hgvs_p": "p.Ala1078Val",
"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": "V",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "A",
"aa_start": 1069,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 3330,
"cds_end": null,
"cds_length": 3345,
"cds_start": 3206,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851430.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3206_3207delCAinsTC",
"hgvs_p": "p.Ala1069Val",
"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": "V",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_030793.5",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3203_3204delCAinsTC",
"hgvs_p": "p.Ala1068Val",
"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": "V",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 3410,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851420.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3203_3204delCAinsTC",
"hgvs_p": "p.Ala1068Val",
"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": "V",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 3344,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949010.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3203_3204delCAinsTC",
"hgvs_p": "p.Ala1068Val",
"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": "V",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "A",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3342,
"cds_start": 3203,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949016.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3203_3204delCAinsTC",
"hgvs_p": "p.Ala1068Val",
"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": "V",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "A",
"aa_start": 1033,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 3161,
"cds_end": null,
"cds_length": 3237,
"cds_start": 3098,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928055.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.3098_3099delCAinsTC",
"hgvs_p": "p.Ala1033Val",
"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": "V",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "A",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2873,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949012.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2873_2874delCAinsTC",
"hgvs_p": "p.Ala958Val",
"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": "V",
"aa_end": null,
"aa_length": 943,
"aa_ref": "A",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 2838,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271723.2",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2693_2694delCAinsTC",
"hgvs_p": "p.Ala898Val",
"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": "V",
"aa_end": null,
"aa_length": 943,
"aa_ref": "A",
"aa_start": 898,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2861,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2693,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000296701.10",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2693_2694delCAinsTC",
"hgvs_p": "p.Ala898Val",
"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": "V",
"aa_end": null,
"aa_length": 924,
"aa_ref": "A",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2636,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949011.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.2636_2637delCAinsTC",
"hgvs_p": "p.Ala879Val",
"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": "V",
"aa_end": null,
"aa_length": 814,
"aa_ref": "A",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 2402,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2306,
"consequences": [
"missense_variant"
],
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