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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: 12-7190497-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7190497&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7190497,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_001131023.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001351132.2",
"protein_id": "NP_001338061.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": "ENST00000675855.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351132.2"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000675855.1",
"protein_id": "ENSP00000502374.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": "NM_001351132.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675855.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000420616.6",
"protein_id": "ENSP00000410159.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420616.6"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000266564.7",
"protein_id": "ENSP00000266564.3",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 631,
"cds_start": 127,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266564.7"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000266563.9",
"protein_id": "ENSP00000266563.5",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 602,
"cds_start": 127,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266563.9"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.189dupC",
"hgvs_p": "p.Gly64fs",
"transcript": "ENST00000412720.6",
"protein_id": "ENSP00000391601.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 660,
"cds_start": 190,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412720.6"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001131023.2",
"protein_id": "NP_001124495.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131023.2"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000434354.6",
"protein_id": "ENSP00000407401.2",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434354.6"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000872555.1",
"protein_id": "ENSP00000542614.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872555.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000872576.1",
"protein_id": "ENSP00000542635.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872576.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000934627.1",
"protein_id": "ENSP00000604686.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934627.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000934630.1",
"protein_id": "ENSP00000604689.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 654,
"cds_start": 127,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934630.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000958671.1",
"protein_id": "ENSP00000628730.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 652,
"cds_start": 127,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958671.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000872568.1",
"protein_id": "ENSP00000542627.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 647,
"cds_start": 127,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872568.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000872574.1",
"protein_id": "ENSP00000542633.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 646,
"cds_start": 127,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872574.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000934619.1",
"protein_id": "ENSP00000604678.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 646,
"cds_start": 127,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934619.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "ENST00000872566.1",
"protein_id": "ENSP00000542625.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 643,
"cds_start": 127,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872566.1"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001131025.2",
"protein_id": "NP_001124497.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131025.2"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001131026.2",
"protein_id": "NP_001124498.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131026.2"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001300789.3",
"protein_id": "NP_001287718.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300789.3"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001351131.2",
"protein_id": "NP_001338060.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351131.2"
},
{
"aa_ref": "G",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEX5",
"gene_hgnc_id": 9719,
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs",
"transcript": "NM_001351133.2",
"protein_id": "NP_001338062.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351133.2"
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"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.352,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001131023.2",
"gene_symbol": "PEX5",
"hgnc_id": 9719,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.126dupC",
"hgvs_p": "p.Gly43fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}