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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: 1-151406322-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151406322&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"hgvs_c": "c.2733dupA",
"hgvs_p": "p.Ala912fs",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001410860.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2712,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_015100.4",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2712dupA",
"hgvs_p": "p.Ala905fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000271715.7",
"protein_coding": true,
"protein_id": "NP_055915.2",
"strand": false,
"transcript": "NM_015100.4",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2712,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000271715.7",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2712dupA",
"hgvs_p": "p.Ala905fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015100.4",
"protein_coding": true,
"protein_id": "ENSP00000271715.2",
"strand": false,
"transcript": "ENST00000271715.7",
"transcript_support_level": 1
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "L",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 4074,
"cds_start": 2553,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000392723.6",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2553dupA",
"hgvs_p": "p.Ala852fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376484.1",
"strand": false,
"transcript": "ENST00000392723.6",
"transcript_support_level": 1
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "L",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 2456,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2427,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000368863.6",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2427dupA",
"hgvs_p": "p.Ala810fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357856.2",
"strand": false,
"transcript": "ENST00000368863.6",
"transcript_support_level": 1
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "L",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6655,
"cdna_start": 3056,
"cds_end": null,
"cds_length": 4281,
"cds_start": 2760,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000710270.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2760dupA",
"hgvs_p": "p.Ala921fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518163.1",
"strand": false,
"transcript": "ENST00000710270.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6452,
"cdna_start": 2853,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2733,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001410860.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2733dupA",
"hgvs_p": "p.Ala912fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397789.1",
"strand": false,
"transcript": "NM_001410860.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "L",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 2829,
"cds_end": null,
"cds_length": 4254,
"cds_start": 2733,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000703168.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2733dupA",
"hgvs_p": "p.Ala912fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515214.1",
"strand": false,
"transcript": "ENST00000703168.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 4291,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2712,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000439756.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2712dupA",
"hgvs_p": "p.Ala905fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390156.2",
"strand": false,
"transcript": "ENST00000439756.2",
"transcript_support_level": 3
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6628,
"cdna_start": 3029,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2685,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001194937.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2685dupA",
"hgvs_p": "p.Ala896fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181866.1",
"strand": false,
"transcript": "NM_001194937.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4813,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2685,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000409503.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2685dupA",
"hgvs_p": "p.Ala896fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386836.1",
"strand": false,
"transcript": "ENST00000409503.5",
"transcript_support_level": 2
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "L",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 2609,
"cds_end": null,
"cds_length": 4101,
"cds_start": 2580,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000491586.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2580dupA",
"hgvs_p": "p.Ala861fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418408.1",
"strand": false,
"transcript": "ENST00000491586.5",
"transcript_support_level": 5
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "L",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6153,
"cdna_start": 2554,
"cds_end": null,
"cds_length": 4074,
"cds_start": 2553,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_207171.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2553dupA",
"hgvs_p": "p.Ala852fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_997054.1",
"strand": false,
"transcript": "NM_207171.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "L",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 2870,
"cds_end": null,
"cds_length": 4047,
"cds_start": 2526,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001194938.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2526dupA",
"hgvs_p": "p.Ala843fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181867.1",
"strand": false,
"transcript": "NM_001194938.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1348,
"aa_ref": "L",
"aa_start": 842,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 4047,
"cds_start": 2526,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000531094.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2526dupA",
"hgvs_p": "p.Ala843fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431259.1",
"strand": false,
"transcript": "ENST00000531094.5",
"transcript_support_level": 2
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1315,
"aa_ref": "L",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 2771,
"cds_end": null,
"cds_length": 3948,
"cds_start": 2427,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_145796.4",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2427dupA",
"hgvs_p": "p.Ala810fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665739.3",
"strand": false,
"transcript": "NM_145796.4",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 315,
"aa_ref": "L",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": 912,
"cds_end": null,
"cds_length": 949,
"cds_start": 912,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000529669.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.912dupA",
"hgvs_p": "p.Ala305fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432295.1",
"strand": false,
"transcript": "ENST00000529669.1",
"transcript_support_level": 5
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7188,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2712,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_005245000.5",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2712dupA",
"hgvs_p": "p.Ala905fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245057.1",
"strand": false,
"transcript": "XM_005245000.5",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1410,
"aa_ref": "L",
"aa_start": 904,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6351,
"cdna_start": 2752,
"cds_end": null,
"cds_length": 4233,
"cds_start": 2712,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047450064.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2712dupA",
"hgvs_p": "p.Ala905fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306020.1",
"strand": false,
"transcript": "XM_047450064.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1408,
"aa_ref": "L",
"aa_start": 902,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6425,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 4227,
"cds_start": 2706,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047450065.1",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2706dupA",
"hgvs_p": "p.Ala903fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306021.1",
"strand": false,
"transcript": "XM_047450065.1",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "L",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7161,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 4206,
"cds_start": 2685,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017000746.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2685dupA",
"hgvs_p": "p.Ala896fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856235.1",
"strand": false,
"transcript": "XM_017000746.2",
"transcript_support_level": null
},
{
"aa_alt": "L?",
"aa_end": null,
"aa_length": 1364,
"aa_ref": "L",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6293,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 4095,
"cds_start": 2574,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017000748.2",
"gene_hgnc_id": 18801,
"gene_symbol": "POGZ",
"hgvs_c": "c.2574dupA",
"hgvs_p": "p.Ala859fs",
"intron_rank": null,
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