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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: 12-88049230-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=88049230&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CEP290",
"hgnc_id": 29021,
"hgvs_c": "c.7394A>C",
"hgvs_p": "p.Glu2465Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_025114.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "RLIG1",
"hgnc_id": 25322,
"hgvs_c": "c.*808T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001009894.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": 0.0732,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "CEP290-related disorder,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05699336528778076,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2479,
"aa_ref": "E",
"aa_start": 2465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7824,
"cdna_start": 7610,
"cds_end": null,
"cds_length": 7440,
"cds_start": 7394,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_025114.4",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7394A>C",
"hgvs_p": "p.Glu2465Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000552810.6",
"protein_coding": true,
"protein_id": "NP_079390.3",
"strand": false,
"transcript": "NM_025114.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2479,
"aa_ref": "E",
"aa_start": 2465,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7824,
"cdna_start": 7610,
"cds_end": null,
"cds_length": 7440,
"cds_start": 7394,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000552810.6",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7394A>C",
"hgvs_p": "p.Glu2465Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025114.4",
"protein_coding": true,
"protein_id": "ENSP00000448012.1",
"strand": false,
"transcript": "ENST00000552810.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1468,
"aa_ref": "E",
"aa_start": 1454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 4363,
"cds_end": null,
"cds_length": 4407,
"cds_start": 4361,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000547691.8",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.4361A>C",
"hgvs_p": "p.Glu1454Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446905.3",
"strand": false,
"transcript": "ENST00000547691.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001009894.3",
"gene_hgnc_id": 25322,
"gene_symbol": "RLIG1",
"hgvs_c": "c.*808T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356891.4",
"protein_coding": true,
"protein_id": "NP_001009894.2",
"strand": true,
"transcript": "NM_001009894.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000356891.4",
"gene_hgnc_id": 25322,
"gene_symbol": "RLIG1",
"hgvs_c": "c.*808T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009894.3",
"protein_coding": true,
"protein_id": "ENSP00000349358.3",
"strand": true,
"transcript": "ENST00000356891.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550333.5",
"gene_hgnc_id": 25322,
"gene_symbol": "RLIG1",
"hgvs_c": "n.*1551T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448194.1",
"strand": true,
"transcript": "ENST00000550333.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000550333.5",
"gene_hgnc_id": 25322,
"gene_symbol": "RLIG1",
"hgvs_c": "n.*1551T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448194.1",
"strand": true,
"transcript": "ENST00000550333.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2766,
"aa_ref": "E",
"aa_start": 2752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8696,
"cdna_start": 8482,
"cds_end": null,
"cds_length": 8301,
"cds_start": 8255,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "ENST00000675476.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8255A>C",
"hgvs_p": "p.Glu2752Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502161.1",
"strand": false,
"transcript": "ENST00000675476.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2735,
"aa_ref": "E",
"aa_start": 2721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8603,
"cdna_start": 8389,
"cds_end": null,
"cds_length": 8208,
"cds_start": 8162,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000675833.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8162A>C",
"hgvs_p": "p.Glu2721Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502559.1",
"strand": false,
"transcript": "ENST00000675833.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2482,
"aa_ref": "E",
"aa_start": 2468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7844,
"cdna_start": 7630,
"cds_end": null,
"cds_length": 7449,
"cds_start": 7403,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000309041.12",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7403A>C",
"hgvs_p": "p.Glu2468Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308021.8",
"strand": false,
"transcript": "ENST00000309041.12",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2472,
"aa_ref": "E",
"aa_start": 2458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7814,
"cdna_start": 7600,
"cds_end": null,
"cds_length": 7419,
"cds_start": 7373,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000675230.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7373A>C",
"hgvs_p": "p.Glu2458Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502503.1",
"strand": false,
"transcript": "ENST00000675230.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2454,
"aa_ref": "E",
"aa_start": 2440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7743,
"cdna_start": 7535,
"cds_end": null,
"cds_length": 7365,
"cds_start": 7319,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000940537.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7319A>C",
"hgvs_p": "p.Glu2440Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610596.1",
"strand": false,
"transcript": "ENST00000940537.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2438,
"aa_ref": "E",
"aa_start": 2424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7712,
"cdna_start": 7498,
"cds_end": null,
"cds_length": 7317,
"cds_start": 7271,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000673058.2",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7271A>C",
"hgvs_p": "p.Glu2424Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500665.2",
"strand": false,
"transcript": "ENST00000673058.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2424,
"aa_ref": "E",
"aa_start": 2410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7670,
"cdna_start": 7456,
"cds_end": null,
"cds_length": 7275,
"cds_start": 7229,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 53,
"exon_rank_end": null,
"feature": "ENST00000675408.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7229A>C",
"hgvs_p": "p.Glu2410Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502298.1",
"strand": false,
"transcript": "ENST00000675408.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2417,
"aa_ref": "E",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7627,
"cdna_start": 7413,
"cds_end": null,
"cds_length": 7254,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 52,
"exon_rank_end": null,
"feature": "ENST00000940538.1",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.7208A>C",
"hgvs_p": "p.Glu2403Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610597.1",
"strand": false,
"transcript": "ENST00000940538.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2769,
"aa_ref": "E",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8694,
"cdna_start": 8480,
"cds_end": null,
"cds_length": 8310,
"cds_start": 8264,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "XM_011538756.4",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8264A>C",
"hgvs_p": "p.Glu2755Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537058.1",
"strand": false,
"transcript": "XM_011538756.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2769,
"aa_ref": "E",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8632,
"cdna_start": 8418,
"cds_end": null,
"cds_length": 8310,
"cds_start": 8264,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "XM_011538757.4",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8264A>C",
"hgvs_p": "p.Glu2755Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537059.1",
"strand": false,
"transcript": "XM_011538757.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "E",
"aa_start": 2754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8691,
"cdna_start": 8477,
"cds_end": null,
"cds_length": 8307,
"cds_start": 8261,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "XM_011538758.4",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8261A>C",
"hgvs_p": "p.Glu2754Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537060.1",
"strand": false,
"transcript": "XM_011538758.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2766,
"aa_ref": "E",
"aa_start": 2752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8685,
"cdna_start": 8471,
"cds_end": null,
"cds_length": 8301,
"cds_start": 8255,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "XM_011538759.3",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8255A>C",
"hgvs_p": "p.Glu2752Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537061.1",
"strand": false,
"transcript": "XM_011538759.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2728,
"aa_ref": "E",
"aa_start": 2714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8571,
"cdna_start": 8357,
"cds_end": null,
"cds_length": 8187,
"cds_start": 8141,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "XM_011538760.3",
"gene_hgnc_id": 29021,
"gene_symbol": "CEP290",
"hgvs_c": "c.8141A>C",
"hgvs_p": "p.Glu2714Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011537062.1",
"strand": false,
"transcript": "XM_011538760.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 2725,
"aa_ref": "E",
"aa_start": 2711,
"biotype": "protein_coding",
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