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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-65518022-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=65518022&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAS1L",
"hgnc_id": 25726,
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Gly631Glu",
"inheritance_mode": "Unknown,XL",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_031206.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.0991,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07197868824005127,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 734,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_031206.7",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Gly631Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374811.8",
"protein_coding": true,
"protein_id": "NP_112483.1",
"strand": false,
"transcript": "NM_031206.7",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 734,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000374811.8",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Gly631Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031206.7",
"protein_coding": true,
"protein_id": "ENSP00000363944.3",
"strand": false,
"transcript": "ENST00000374811.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 717,
"aa_ref": "G",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 1880,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000374807.9",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Gly614Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363940.5",
"strand": false,
"transcript": "ENST00000374807.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 748,
"aa_ref": "G",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867035.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1934G>A",
"hgvs_p": "p.Gly645Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537094.1",
"strand": false,
"transcript": "ENST00000867035.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 733,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 1964,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001375328.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Gly631Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362257.1",
"strand": false,
"transcript": "NM_001375328.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 733,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1892,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867034.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Gly631Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537093.1",
"strand": false,
"transcript": "ENST00000867034.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 727,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2442,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867036.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Gly624Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537095.1",
"strand": false,
"transcript": "ENST00000867036.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 726,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1946,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911726.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Gly624Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581785.1",
"strand": false,
"transcript": "ENST00000911726.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 721,
"aa_ref": "G",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1853,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971942.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Gly618Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642001.1",
"strand": false,
"transcript": "ENST00000971942.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 717,
"aa_ref": "G",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2154,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001170649.2",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Gly614Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164120.1",
"strand": false,
"transcript": "NM_001170649.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 716,
"aa_ref": "G",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001375333.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Gly614Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362262.1",
"strand": false,
"transcript": "NM_001375333.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 716,
"aa_ref": "G",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000867031.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1841G>A",
"hgvs_p": "p.Gly614Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537090.1",
"strand": false,
"transcript": "ENST00000867031.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 703,
"aa_ref": "G",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1799,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000971940.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Gly600Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641999.1",
"strand": false,
"transcript": "ENST00000971940.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 692,
"aa_ref": "G",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1766,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000867037.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1766G>A",
"hgvs_p": "p.Gly589Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537096.1",
"strand": false,
"transcript": "ENST00000867037.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 686,
"aa_ref": "G",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1748,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000971938.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Gly583Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641997.1",
"strand": false,
"transcript": "ENST00000971938.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 679,
"aa_ref": "G",
"aa_start": 576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1727,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911730.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Gly576Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581789.1",
"strand": false,
"transcript": "ENST00000911730.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001170650.2",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Gly572Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001164121.1",
"strand": false,
"transcript": "NM_001170650.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000374804.9",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Gly572Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363937.5",
"strand": false,
"transcript": "ENST00000374804.9",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911728.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Gly572Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581787.1",
"strand": false,
"transcript": "ENST00000911728.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 674,
"aa_ref": "G",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2303,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867032.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Gly572Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537091.1",
"strand": false,
"transcript": "ENST00000867032.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 665,
"aa_ref": "G",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1685,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867033.1",
"gene_hgnc_id": 25726,
"gene_symbol": "LAS1L",
"hgvs_c": "c.1685G>A",
"hgvs_p": "p.Gly562Glu",
"intron_rank": null,
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