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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": "ENST00000675855.1",
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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": null,
"feature": null
},
{
"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_001351134.2",
"protein_id": "NP_001338063.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
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"cdna_start": 281,
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"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NM_001374647.2",
"protein_id": "NP_001361576.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENST00000455147.6",
"protein_id": "ENSP00000400647.2",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 639,
"cds_start": 127,
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"cdna_start": 707,
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"cdna_length": 2689,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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_001351136.2",
"protein_id": "NP_001338065.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 636,
"cds_start": 127,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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_000319.5",
"protein_id": "NP_000310.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 631,
"cds_start": 127,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NM_001351135.3",
"protein_id": "NP_001338064.2",
"transcript_support_level": null,
"aa_start": 43,
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"aa_length": 617,
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"cdna_start": 438,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"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": "NM_001351138.2",
"protein_id": "NP_001338067.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 617,
"cds_start": 127,
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"cdna_start": 208,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"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": "NM_001131024.2",
"protein_id": "NP_001124496.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 602,
"cds_start": 127,
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"cdna_start": 208,
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"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NM_001351124.3",
"protein_id": "NP_001338053.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 602,
"cds_start": 127,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "NM_001351126.2",
"protein_id": "NP_001338055.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 602,
"cds_start": 127,
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{
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],
"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
}