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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: 2-208325773-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208325773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PIKFYVE",
"hgnc_id": 23785,
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Gln988*",
"inheritance_mode": "AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_015040.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Fleck corneal dystrophy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.28999999165534973,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "Q",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 6297,
"cds_start": 2962,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015040.4",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Gln988*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264380.9",
"protein_coding": true,
"protein_id": "NP_055855.2",
"strand": true,
"transcript": "NM_015040.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "Q",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 3132,
"cds_end": null,
"cds_length": 6297,
"cds_start": 2962,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000264380.9",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2962C>T",
"hgvs_p": "p.Gln988*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015040.4",
"protein_coding": true,
"protein_id": "ENSP00000264380.4",
"strand": true,
"transcript": "ENST00000264380.9",
"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": 3282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000443896.5",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "n.*2313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407692.1",
"strand": true,
"transcript": "ENST00000443896.5",
"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": 3282,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000443896.5",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "n.*2313C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407692.1",
"strand": true,
"transcript": "ENST00000443896.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "Q",
"aa_start": 993,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7835,
"cdna_start": 3154,
"cds_end": null,
"cds_length": 6312,
"cds_start": 2977,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000909798.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2977C>T",
"hgvs_p": "p.Gln993*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579857.1",
"strand": true,
"transcript": "ENST00000909798.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "Q",
"aa_start": 982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9743,
"cdna_start": 2985,
"cds_end": null,
"cds_length": 6279,
"cds_start": 2944,
"consequences": [
"stop_gained"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000923116.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2944C>T",
"hgvs_p": "p.Gln982*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593175.1",
"strand": true,
"transcript": "ENST00000923116.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "Q",
"aa_start": 926,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 2963,
"cds_end": null,
"cds_length": 6111,
"cds_start": 2776,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923111.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2776C>T",
"hgvs_p": "p.Gln926*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593170.1",
"strand": true,
"transcript": "ENST00000923111.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2001,
"aa_ref": "Q",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9501,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 6006,
"cds_start": 2671,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923110.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2671C>T",
"hgvs_p": "p.Gln891*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593169.1",
"strand": true,
"transcript": "ENST00000923110.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2001,
"aa_ref": "Q",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9626,
"cdna_start": 2849,
"cds_end": null,
"cds_length": 6006,
"cds_start": 2671,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923112.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2671C>T",
"hgvs_p": "p.Gln891*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593171.1",
"strand": true,
"transcript": "ENST00000923112.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1999,
"aa_ref": "Q",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9514,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 6000,
"cds_start": 2665,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923117.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2665C>T",
"hgvs_p": "p.Gln889*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593176.1",
"strand": true,
"transcript": "ENST00000923117.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1995,
"aa_ref": "Q",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9604,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 5988,
"cds_start": 2653,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923113.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2653C>T",
"hgvs_p": "p.Gln885*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593172.1",
"strand": true,
"transcript": "ENST00000923113.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "Q",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9485,
"cdna_start": 2712,
"cds_end": null,
"cds_length": 5856,
"cds_start": 2521,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960156.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2521C>T",
"hgvs_p": "p.Gln841*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630215.1",
"strand": true,
"transcript": "ENST00000960156.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "Q",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9483,
"cdna_start": 2703,
"cds_end": null,
"cds_length": 5856,
"cds_start": 2521,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960157.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2521C>T",
"hgvs_p": "p.Gln841*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630216.1",
"strand": true,
"transcript": "ENST00000960157.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "Q",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9447,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 5838,
"cds_start": 2503,
"consequences": [
"stop_gained"
],
"exon_count": 39,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923115.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2503C>T",
"hgvs_p": "p.Gln835*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593174.1",
"strand": true,
"transcript": "ENST00000923115.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1896,
"aa_ref": "Q",
"aa_start": 841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9259,
"cdna_start": 2643,
"cds_end": null,
"cds_length": 5691,
"cds_start": 2521,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960158.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2521C>T",
"hgvs_p": "p.Gln841*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630217.1",
"strand": true,
"transcript": "ENST00000960158.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1895,
"aa_ref": "Q",
"aa_start": 785,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9300,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 5688,
"cds_start": 2353,
"consequences": [
"stop_gained"
],
"exon_count": 38,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000923114.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2353C>T",
"hgvs_p": "p.Gln785*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593173.1",
"strand": true,
"transcript": "ENST00000923114.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "Q",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 4152,
"cds_start": 2794,
"consequences": [
"stop_gained"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000452564.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2794C>T",
"hgvs_p": "p.Gln932*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405736.1",
"strand": true,
"transcript": "ENST00000452564.1",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "Q",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9944,
"cdna_start": 3168,
"cds_end": null,
"cds_length": 6333,
"cds_start": 2998,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510778.4",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2998C>T",
"hgvs_p": "p.Gln1000*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509080.1",
"strand": true,
"transcript": "XM_011510778.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "Q",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10001,
"cdna_start": 3225,
"cds_end": null,
"cds_length": 6333,
"cds_start": 2998,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510779.3",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2998C>T",
"hgvs_p": "p.Gln1000*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509081.1",
"strand": true,
"transcript": "XM_011510779.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2109,
"aa_ref": "Q",
"aa_start": 999,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9941,
"cdna_start": 3165,
"cds_end": null,
"cds_length": 6330,
"cds_start": 2995,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510780.3",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2995C>T",
"hgvs_p": "p.Gln999*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509082.1",
"strand": true,
"transcript": "XM_011510780.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 2104,
"aa_ref": "Q",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9926,
"cdna_start": 3150,
"cds_end": null,
"cds_length": 6315,
"cds_start": 2980,
"consequences": [
"stop_gained"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510781.4",
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