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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: X-18779018-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18779018&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PPEF1",
"hgnc_id": 9243,
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_006240.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 4803,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "X",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001377996.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000470157.2",
"protein_coding": true,
"protein_id": "NP_001364925.1",
"strand": true,
"transcript": "NM_001377996.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000470157.2",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001377996.1",
"protein_coding": true,
"protein_id": "ENSP00000419273.2",
"strand": true,
"transcript": "ENST00000470157.2",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000361511.9",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354871.3",
"strand": true,
"transcript": "ENST00000361511.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001377986.2",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364915.1",
"strand": true,
"transcript": "NM_001377986.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001377993.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364922.1",
"strand": true,
"transcript": "NM_001377993.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378381.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365310.1",
"strand": true,
"transcript": "NM_001378381.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389620.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376549.1",
"strand": true,
"transcript": "NM_001389620.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389621.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376550.1",
"strand": true,
"transcript": "NM_001389621.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_006240.4",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006231.2",
"strand": true,
"transcript": "NM_006240.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000471570.6",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509623.1",
"strand": true,
"transcript": "ENST00000471570.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000689646.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509616.1",
"strand": true,
"transcript": "ENST00000689646.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000692488.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510505.1",
"strand": true,
"transcript": "ENST00000692488.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908182.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578241.1",
"strand": true,
"transcript": "ENST00000908182.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 653,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1962,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000908183.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578242.1",
"strand": true,
"transcript": "ENST00000908183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1907,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000472826.6",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419948.2",
"strand": true,
"transcript": "ENST00000472826.6",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 625,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2752,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1878,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_152224.2",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689410.1",
"strand": true,
"transcript": "NM_152224.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2699,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1776,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001389623.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376552.1",
"strand": true,
"transcript": "NM_001389623.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2650,
"cdna_start": 1011,
"cds_end": null,
"cds_length": 1776,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_152226.2",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689412.1",
"strand": true,
"transcript": "NM_152226.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "L",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1776,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000349874.10",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Leu189Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341892.5",
"strand": true,
"transcript": "ENST00000349874.10",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 588,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 575,
"cds_end": null,
"cds_length": 1767,
"cds_start": 372,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377994.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
"hgvs_c": "c.372C>T",
"hgvs_p": "p.Leu124Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364923.1",
"strand": true,
"transcript": "NM_001377994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "L",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1692,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001377995.1",
"gene_hgnc_id": 9243,
"gene_symbol": "PPEF1",
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