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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: 4-150282518-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=150282518&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRBA",
"hgnc_id": 1742,
"hgvs_c": "c.8296G>A",
"hgvs_p": "p.Gly2766Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001440430.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.1218,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Combined immunodeficiency due to LRBA deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6486234664916992,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2852,
"aa_ref": "G",
"aa_start": 2750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10148,
"cdna_start": 8550,
"cds_end": null,
"cds_length": 8559,
"cds_start": 8248,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001364905.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8248G>A",
"hgvs_p": "p.Gly2750Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651943.2",
"protein_coding": true,
"protein_id": "NP_001351834.1",
"strand": false,
"transcript": "NM_001364905.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2852,
"aa_ref": "G",
"aa_start": 2750,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10148,
"cdna_start": 8550,
"cds_end": null,
"cds_length": 8559,
"cds_start": 8248,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000651943.2",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8248G>A",
"hgvs_p": "p.Gly2750Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001364905.1",
"protein_coding": true,
"protein_id": "ENSP00000498582.2",
"strand": false,
"transcript": "ENST00000651943.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2863,
"aa_ref": "G",
"aa_start": 2761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10353,
"cdna_start": 8755,
"cds_end": null,
"cds_length": 8592,
"cds_start": 8281,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "ENST00000357115.9",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8281G>A",
"hgvs_p": "p.Gly2761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349629.3",
"strand": false,
"transcript": "ENST00000357115.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2851,
"aa_ref": "G",
"aa_start": 2749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10032,
"cdna_start": 8530,
"cds_end": null,
"cds_length": 8556,
"cds_start": 8245,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000510413.5",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8245G>A",
"hgvs_p": "p.Gly2749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421552.1",
"strand": false,
"transcript": "ENST00000510413.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 758,
"aa_ref": "G",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1966,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000503716.5",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Gly656Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513123.1",
"strand": false,
"transcript": "ENST00000503716.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6292,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515096.6",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "n.4918G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000515096.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2868,
"aa_ref": "G",
"aa_start": 2766,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10196,
"cdna_start": 8598,
"cds_end": null,
"cds_length": 8607,
"cds_start": 8296,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "NM_001440430.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8296G>A",
"hgvs_p": "p.Gly2766Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427359.1",
"strand": false,
"transcript": "NM_001440430.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2863,
"aa_ref": "G",
"aa_start": 2761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10353,
"cdna_start": 8755,
"cds_end": null,
"cds_length": 8592,
"cds_start": 8281,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "NM_006726.5",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8281G>A",
"hgvs_p": "p.Gly2761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006717.2",
"strand": false,
"transcript": "NM_006726.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2863,
"aa_ref": "G",
"aa_start": 2761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9956,
"cdna_start": 8582,
"cds_end": null,
"cds_length": 8592,
"cds_start": 8281,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 56,
"exon_rank_end": null,
"feature": "ENST00000911751.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8281G>A",
"hgvs_p": "p.Gly2761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581810.1",
"strand": false,
"transcript": "ENST00000911751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2857,
"aa_ref": "G",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10335,
"cdna_start": 8737,
"cds_end": null,
"cds_length": 8574,
"cds_start": 8263,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001367550.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8263G>A",
"hgvs_p": "p.Gly2755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354479.1",
"strand": false,
"transcript": "NM_001367550.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2857,
"aa_ref": "G",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10163,
"cdna_start": 8565,
"cds_end": null,
"cds_length": 8574,
"cds_start": 8263,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001440431.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8263G>A",
"hgvs_p": "p.Gly2755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427360.1",
"strand": false,
"transcript": "NM_001440431.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2857,
"aa_ref": "G",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9880,
"cdna_start": 8514,
"cds_end": null,
"cds_length": 8574,
"cds_start": 8263,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000651695.2",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8263G>A",
"hgvs_p": "p.Gly2755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498254.2",
"strand": false,
"transcript": "ENST00000651695.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 2857,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10162,
"cdna_start": 8564,
"cds_end": null,
"cds_length": 8574,
"cds_start": 8263,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000911750.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8263G>A",
"hgvs_p": "p.Gly2755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581809.1",
"strand": false,
"transcript": "ENST00000911750.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2857,
"aa_ref": "G",
"aa_start": 2755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9996,
"cdna_start": 8624,
"cds_end": null,
"cds_length": 8574,
"cds_start": 8263,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000911753.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8263G>A",
"hgvs_p": "p.Gly2755Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581812.1",
"strand": false,
"transcript": "ENST00000911753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2852,
"aa_ref": "G",
"aa_start": 2750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10341,
"cdna_start": 8750,
"cds_end": null,
"cds_length": 8559,
"cds_start": 8248,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000911749.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8248G>A",
"hgvs_p": "p.Gly2750Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581808.1",
"strand": false,
"transcript": "ENST00000911749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2851,
"aa_ref": "G",
"aa_start": 2749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10145,
"cdna_start": 8547,
"cds_end": null,
"cds_length": 8556,
"cds_start": 8245,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "NM_001199282.3",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8245G>A",
"hgvs_p": "p.Gly2749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186211.2",
"strand": false,
"transcript": "NM_001199282.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2801,
"aa_ref": "G",
"aa_start": 2699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9737,
"cdna_start": 8363,
"cds_end": null,
"cds_length": 8406,
"cds_start": 8095,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000911752.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.8095G>A",
"hgvs_p": "p.Gly2699Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581811.1",
"strand": false,
"transcript": "ENST00000911752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 968,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 2597,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000697128.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Gly866Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513126.1",
"strand": false,
"transcript": "ENST00000697128.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 758,
"aa_ref": "G",
"aa_start": 656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1966,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001440432.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Gly656Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427361.1",
"strand": false,
"transcript": "NM_001440432.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 756,
"aa_ref": "G",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001440433.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Gly654Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427362.1",
"strand": false,
"transcript": "NM_001440433.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 1982,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1921,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000697127.1",
"gene_hgnc_id": 1742,
"gene_symbol": "LRBA",
"hgvs_c": "c.1921G>A",
"hgvs_p": "p.Gly641Ser",
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