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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: 3-49808026-AC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49808026&ref=AC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "UBA7",
"hgnc_id": 12471,
"hgvs_c": "c.2516_2517delGTinsCG",
"hgvs_p": "p.Arg839Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003335.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "P",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 2683,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003335.3",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2516_2517delGTinsCG",
"hgvs_p": "p.Arg839Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333486.4",
"protein_coding": true,
"protein_id": "NP_003326.2",
"strand": false,
"transcript": "NM_003335.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3304,
"cdna_start": 2683,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000333486.4",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2516_2517delGTinsCG",
"hgvs_p": "p.Arg839Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003335.3",
"protein_coding": true,
"protein_id": "ENSP00000333266.3",
"strand": false,
"transcript": "ENST00000333486.4",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2644,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2531,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905619.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2531_2532delGTinsCG",
"hgvs_p": "p.Arg844Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575678.1",
"strand": false,
"transcript": "ENST00000905619.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 2758,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905599.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2516_2517delGTinsCG",
"hgvs_p": "p.Arg839Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575658.1",
"strand": false,
"transcript": "ENST00000905599.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "R",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3284,
"cdna_start": 2659,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2513,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905613.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2513_2514delGTinsCG",
"hgvs_p": "p.Arg838Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575672.1",
"strand": false,
"transcript": "ENST00000905613.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "R",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": 2651,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905614.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2507_2508delGTinsCG",
"hgvs_p": "p.Arg836Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575673.1",
"strand": false,
"transcript": "ENST00000905614.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "R",
"aa_start": 833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2498,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942947.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2498_2499delGTinsCG",
"hgvs_p": "p.Arg833Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613006.1",
"strand": false,
"transcript": "ENST00000942947.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1001,
"aa_ref": "R",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 3006,
"cds_start": 2483,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905609.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2483_2484delGTinsCG",
"hgvs_p": "p.Arg828Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575668.1",
"strand": false,
"transcript": "ENST00000905609.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 995,
"aa_ref": "R",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2465,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942954.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2465_2466delGTinsCG",
"hgvs_p": "p.Arg822Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613013.1",
"strand": false,
"transcript": "ENST00000942954.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 993,
"aa_ref": "R",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 2982,
"cds_start": 2459,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905605.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2459_2460delGTinsCG",
"hgvs_p": "p.Arg820Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575664.1",
"strand": false,
"transcript": "ENST00000905605.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 992,
"aa_ref": "R",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2979,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905607.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2456_2457delGTinsCG",
"hgvs_p": "p.Arg819Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575666.1",
"strand": false,
"transcript": "ENST00000905607.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 990,
"aa_ref": "R",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 2606,
"cds_end": null,
"cds_length": 2973,
"cds_start": 2450,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942951.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2450_2451delGTinsCG",
"hgvs_p": "p.Arg817Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613010.1",
"strand": false,
"transcript": "ENST00000942951.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 987,
"aa_ref": "R",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3246,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905603.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2441_2442delGTinsCG",
"hgvs_p": "p.Arg814Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575662.1",
"strand": false,
"transcript": "ENST00000905603.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 986,
"aa_ref": "R",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2961,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942955.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2438_2439delGTinsCG",
"hgvs_p": "p.Arg813Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613014.1",
"strand": false,
"transcript": "ENST00000942955.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 985,
"aa_ref": "R",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2669,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905600.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2441_2442delGTinsCG",
"hgvs_p": "p.Arg814Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575659.1",
"strand": false,
"transcript": "ENST00000905600.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 985,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3179,
"cdna_start": 2554,
"cds_end": null,
"cds_length": 2958,
"cds_start": 2435,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905616.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2435_2436delGTinsCG",
"hgvs_p": "p.Arg812Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575675.1",
"strand": false,
"transcript": "ENST00000905616.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 978,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3148,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2937,
"cds_start": 2516,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905618.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2516_2517delGTinsCG",
"hgvs_p": "p.Arg839Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575677.1",
"strand": false,
"transcript": "ENST00000905618.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 975,
"aa_ref": "R",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2405,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942948.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2405_2406delGTinsCG",
"hgvs_p": "p.Arg802Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613007.1",
"strand": false,
"transcript": "ENST00000942948.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 969,
"aa_ref": "R",
"aa_start": 796,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3174,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2910,
"cds_start": 2387,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905608.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2387_2388delGTinsCG",
"hgvs_p": "p.Arg796Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575667.1",
"strand": false,
"transcript": "ENST00000905608.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 968,
"aa_ref": "R",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2384,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905615.1",
"gene_hgnc_id": 12471,
"gene_symbol": "UBA7",
"hgvs_c": "c.2384_2385delGTinsCG",
"hgvs_p": "p.Arg795Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575674.1",
"strand": false,
"transcript": "ENST00000905615.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 966,
"aa_ref": "R",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3153,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2378,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
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