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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: 2-208325804-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=208325804&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PIKFYVE",
"hgnc_id": 23785,
"hgvs_c": "c.2993C>A",
"hgvs_p": "p.Thr998Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015040.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0656,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04576319456100464,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "T",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 6297,
"cds_start": 2993,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015040.4",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2993C>A",
"hgvs_p": "p.Thr998Asn",
"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": "N",
"aa_end": null,
"aa_length": 2098,
"aa_ref": "T",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9908,
"cdna_start": 3163,
"cds_end": null,
"cds_length": 6297,
"cds_start": 2993,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000264380.9",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2993C>A",
"hgvs_p": "p.Thr998Asn",
"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.*2344C>A",
"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.*2344C>A",
"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": "N",
"aa_end": null,
"aa_length": 2103,
"aa_ref": "T",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7835,
"cdna_start": 3185,
"cds_end": null,
"cds_length": 6312,
"cds_start": 3008,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000909798.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.3008C>A",
"hgvs_p": "p.Thr1003Asn",
"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": "N",
"aa_end": null,
"aa_length": 2092,
"aa_ref": "T",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9743,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 6279,
"cds_start": 2975,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000923116.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2975C>A",
"hgvs_p": "p.Thr992Asn",
"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": "N",
"aa_end": null,
"aa_length": 2036,
"aa_ref": "T",
"aa_start": 936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 6111,
"cds_start": 2807,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000923111.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2807C>A",
"hgvs_p": "p.Thr936Asn",
"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": "N",
"aa_end": null,
"aa_length": 2001,
"aa_ref": "T",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9501,
"cdna_start": 2747,
"cds_end": null,
"cds_length": 6006,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923110.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2702C>A",
"hgvs_p": "p.Thr901Asn",
"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": "N",
"aa_end": null,
"aa_length": 2001,
"aa_ref": "T",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9626,
"cdna_start": 2880,
"cds_end": null,
"cds_length": 6006,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923112.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2702C>A",
"hgvs_p": "p.Thr901Asn",
"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": "N",
"aa_end": null,
"aa_length": 1999,
"aa_ref": "T",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9514,
"cdna_start": 2772,
"cds_end": null,
"cds_length": 6000,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923117.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2696C>A",
"hgvs_p": "p.Thr899Asn",
"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": "N",
"aa_end": null,
"aa_length": 1995,
"aa_ref": "T",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9604,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 5988,
"cds_start": 2684,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000923113.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Thr895Asn",
"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": "N",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "T",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9485,
"cdna_start": 2743,
"cds_end": null,
"cds_length": 5856,
"cds_start": 2552,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960156.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2552C>A",
"hgvs_p": "p.Thr851Asn",
"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": "N",
"aa_end": null,
"aa_length": 1951,
"aa_ref": "T",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9483,
"cdna_start": 2734,
"cds_end": null,
"cds_length": 5856,
"cds_start": 2552,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000960157.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2552C>A",
"hgvs_p": "p.Thr851Asn",
"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": "N",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "T",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9447,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 5838,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000923115.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2534C>A",
"hgvs_p": "p.Thr845Asn",
"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": "N",
"aa_end": null,
"aa_length": 1896,
"aa_ref": "T",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9259,
"cdna_start": 2674,
"cds_end": null,
"cds_length": 5691,
"cds_start": 2552,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000960158.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2552C>A",
"hgvs_p": "p.Thr851Asn",
"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": "N",
"aa_end": null,
"aa_length": 1895,
"aa_ref": "T",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9300,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 5688,
"cds_start": 2384,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000923114.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2384C>A",
"hgvs_p": "p.Thr795Asn",
"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": "N",
"aa_end": null,
"aa_length": 1383,
"aa_ref": "T",
"aa_start": 942,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 2887,
"cds_end": null,
"cds_length": 4152,
"cds_start": 2825,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000452564.1",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.2825C>A",
"hgvs_p": "p.Thr942Asn",
"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": "N",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "T",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9944,
"cdna_start": 3199,
"cds_end": null,
"cds_length": 6333,
"cds_start": 3029,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510778.4",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.3029C>A",
"hgvs_p": "p.Thr1010Asn",
"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": "N",
"aa_end": null,
"aa_length": 2110,
"aa_ref": "T",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10001,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 6333,
"cds_start": 3029,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510779.3",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.3029C>A",
"hgvs_p": "p.Thr1010Asn",
"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": "N",
"aa_end": null,
"aa_length": 2109,
"aa_ref": "T",
"aa_start": 1009,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9941,
"cdna_start": 3196,
"cds_end": null,
"cds_length": 6330,
"cds_start": 3026,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_011510780.3",
"gene_hgnc_id": 23785,
"gene_symbol": "PIKFYVE",
"hgvs_c": "c.3026C>A",
"hgvs_p": "p.Thr1009Asn",
"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": "N",
"aa_end": null,
"aa_length": 2104,
"aa_ref": "T",
"aa_start": 1004,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9926,
"cdna_start": 3181,
"cds_end": null,
"cds_length": 6315,
"cds_start": 3011,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 21,
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