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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: 11-799313-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=799313&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIDD1",
"hgnc_id": 16491,
"hgvs_c": "c.2727G>C",
"hgvs_p": "p.Gln909His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_145886.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "PANO1",
"hgnc_id": 51237,
"hgvs_c": "c.*1040C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000678030.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RPLP2",
"hgnc_id": 10377,
"hgvs_c": "c.-1616C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000960563.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.1533,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17198508977890015,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 910,
"aa_ref": "Q",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2727,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_145886.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2727G>C",
"hgvs_p": "p.Gln909His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347755.10",
"protein_coding": true,
"protein_id": "NP_665893.2",
"strand": false,
"transcript": "NM_145886.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 910,
"aa_ref": "Q",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 2855,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2727,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000347755.10",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2727G>C",
"hgvs_p": "p.Gln909His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145886.4",
"protein_coding": true,
"protein_id": "ENSP00000337797.5",
"strand": false,
"transcript": "ENST00000347755.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 893,
"aa_ref": "Q",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2676,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000411829.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2676G>C",
"hgvs_p": "p.Gln892His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416801.2",
"strand": false,
"transcript": "ENST00000411829.6",
"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": 3175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000525028.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "n.*2427G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436342.1",
"strand": false,
"transcript": "ENST00000525028.6",
"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": 3175,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000525028.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "n.*2427G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436342.1",
"strand": false,
"transcript": "ENST00000525028.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 893,
"aa_ref": "Q",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 2804,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2676,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_145887.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2676G>C",
"hgvs_p": "p.Gln892His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665894.2",
"strand": false,
"transcript": "NM_145887.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 961,
"aa_ref": "Q",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 3429,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2880,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427238.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2880G>C",
"hgvs_p": "p.Gln960His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283194.1",
"strand": false,
"transcript": "XM_047427238.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 944,
"aa_ref": "Q",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 3378,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2829,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427239.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2829G>C",
"hgvs_p": "p.Gln943His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283195.1",
"strand": false,
"transcript": "XM_047427239.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 937,
"aa_ref": "Q",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2808,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047427240.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2808G>C",
"hgvs_p": "p.Gln936His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283196.1",
"strand": false,
"transcript": "XM_047427240.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "Q",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4010,
"cdna_start": 3881,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2799,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_005253005.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2799G>C",
"hgvs_p": "p.Gln933His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253062.1",
"strand": false,
"transcript": "XM_005253005.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 934,
"aa_ref": "Q",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2799,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_005253006.6",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2799G>C",
"hgvs_p": "p.Gln933His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005253063.1",
"strand": false,
"transcript": "XM_005253006.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 920,
"aa_ref": "Q",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3435,
"cdna_start": 3306,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2757,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011520209.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2757G>C",
"hgvs_p": "p.Gln919His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518511.1",
"strand": false,
"transcript": "XM_011520209.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 910,
"aa_ref": "Q",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 3809,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2727,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_011520210.4",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2727G>C",
"hgvs_p": "p.Gln909His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518512.1",
"strand": false,
"transcript": "XM_011520210.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 788,
"aa_ref": "Q",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2361,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011520212.3",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2361G>C",
"hgvs_p": "p.Gln787His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518514.1",
"strand": false,
"transcript": "XM_011520212.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 771,
"aa_ref": "Q",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 2316,
"cds_start": 2310,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047427241.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2310G>C",
"hgvs_p": "p.Gln770His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283197.1",
"strand": false,
"transcript": "XM_047427241.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Q",
"aa_start": 763,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 2581,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2289,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427242.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2289G>C",
"hgvs_p": "p.Gln763His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283198.1",
"strand": false,
"transcript": "XM_047427242.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 747,
"aa_ref": "Q",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047427243.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.2238G>C",
"hgvs_p": "p.Gln746His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283199.1",
"strand": false,
"transcript": "XM_047427243.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Q",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1860,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011520213.3",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.1860G>C",
"hgvs_p": "p.Gln620His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518515.1",
"strand": false,
"transcript": "XM_011520213.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 621,
"aa_ref": "Q",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1860,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047427245.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
"hgvs_c": "c.1860G>C",
"hgvs_p": "p.Gln620His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283201.1",
"strand": false,
"transcript": "XM_047427245.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 597,
"aa_ref": "Q",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2223,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1788,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047427246.1",
"gene_hgnc_id": 16491,
"gene_symbol": "PIDD1",
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