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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: 6-17632830-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=17632830&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUP153",
"hgnc_id": 8062,
"hgvs_c": "c.2572G>C",
"hgvs_p": "p.Ala858Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001278209.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.1001,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10654512047767639,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "A",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 4428,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_005124.4",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2479G>C",
"hgvs_p": "p.Ala827Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262077.3",
"protein_coding": true,
"protein_id": "NP_005115.2",
"strand": false,
"transcript": "NM_005124.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "A",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6026,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 4428,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000262077.3",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2479G>C",
"hgvs_p": "p.Ala827Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005124.4",
"protein_coding": true,
"protein_id": "ENSP00000262077.3",
"strand": false,
"transcript": "ENST00000262077.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "A",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5811,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000613258.4",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2353G>C",
"hgvs_p": "p.Ala785Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478627.1",
"strand": false,
"transcript": "ENST00000613258.4",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "A",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6119,
"cdna_start": 3110,
"cds_end": null,
"cds_length": 4521,
"cds_start": 2572,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001278209.2",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2572G>C",
"hgvs_p": "p.Ala858Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265138.1",
"strand": false,
"transcript": "NM_001278209.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "A",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6030,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 4521,
"cds_start": 2572,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000537253.5",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2572G>C",
"hgvs_p": "p.Ala858Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444029.1",
"strand": false,
"transcript": "ENST00000537253.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "A",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6099,
"cdna_start": 3089,
"cds_end": null,
"cds_length": 4497,
"cds_start": 2548,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000874443.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2548G>C",
"hgvs_p": "p.Ala850Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544502.1",
"strand": false,
"transcript": "ENST00000874443.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1488,
"aa_ref": "A",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5588,
"cdna_start": 2918,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2518,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000940942.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2518G>C",
"hgvs_p": "p.Ala840Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611001.1",
"strand": false,
"transcript": "ENST00000940942.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "A",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 4419,
"cds_start": 2470,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000912068.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2470G>C",
"hgvs_p": "p.Ala824Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582127.1",
"strand": false,
"transcript": "ENST00000912068.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1469,
"aa_ref": "A",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 4410,
"cds_start": 2461,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874441.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2461G>C",
"hgvs_p": "p.Ala821Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544500.1",
"strand": false,
"transcript": "ENST00000874441.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1467,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 4404,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874446.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2455G>C",
"hgvs_p": "p.Ala819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544505.1",
"strand": false,
"transcript": "ENST00000874446.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "A",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5973,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 4392,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874444.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2443G>C",
"hgvs_p": "p.Ala815Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544503.1",
"strand": false,
"transcript": "ENST00000874444.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1457,
"aa_ref": "A",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6312,
"cdna_start": 2973,
"cds_end": null,
"cds_length": 4374,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000874440.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2425G>C",
"hgvs_p": "p.Ala809Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544499.1",
"strand": false,
"transcript": "ENST00000874440.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "A",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5856,
"cdna_start": 2847,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912066.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2407G>C",
"hgvs_p": "p.Ala803Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582125.1",
"strand": false,
"transcript": "ENST00000912066.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "A",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5920,
"cdna_start": 2913,
"cds_end": null,
"cds_length": 4350,
"cds_start": 2401,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912064.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2401G>C",
"hgvs_p": "p.Ala801Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582123.1",
"strand": false,
"transcript": "ENST00000912064.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "A",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5883,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 4329,
"cds_start": 2380,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912065.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2380G>C",
"hgvs_p": "p.Ala794Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582124.1",
"strand": false,
"transcript": "ENST00000912065.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1441,
"aa_ref": "A",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5813,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 4326,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000874447.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2479G>C",
"hgvs_p": "p.Ala827Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544506.1",
"strand": false,
"transcript": "ENST00000874447.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5885,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 4311,
"cds_start": 2362,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000940941.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2362G>C",
"hgvs_p": "p.Ala788Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611000.1",
"strand": false,
"transcript": "ENST00000940941.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "A",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5900,
"cdna_start": 2891,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2353,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001278210.2",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2353G>C",
"hgvs_p": "p.Ala785Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265139.1",
"strand": false,
"transcript": "NM_001278210.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "A",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 4281,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000912070.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2332G>C",
"hgvs_p": "p.Ala778Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582129.1",
"strand": false,
"transcript": "ENST00000912070.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1403,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5816,
"cdna_start": 2807,
"cds_end": null,
"cds_length": 4212,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874442.1",
"gene_hgnc_id": 8062,
"gene_symbol": "NUP153",
"hgvs_c": "c.2263G>C",
"hgvs_p": "p.Ala755Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544501.1",
"strand": false,
"transcript": "ENST00000874442.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1382,
"aa_ref": "A",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5715,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 4149,
"cds_start": 2200,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000874445.1",
"gene_hgnc_id": 8062,
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