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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: 10-132337566-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=132337566&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "LRRC27",
"hgnc_id": 29346,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_030626.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2933,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2737671136856079,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7971,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_030626.3",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368614.8",
"protein_coding": true,
"protein_id": "NP_085129.1",
"strand": true,
"transcript": "NM_030626.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7971,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368614.8",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030626.3",
"protein_coding": true,
"protein_id": "ENSP00000357603.3",
"strand": true,
"transcript": "ENST00000368614.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368613.8",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357602.4",
"strand": true,
"transcript": "ENST00000368613.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1152,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000625755.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486582.1",
"strand": true,
"transcript": "ENST00000625755.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8251,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001143757.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137229.1",
"strand": true,
"transcript": "NM_001143757.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000885091.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555150.1",
"strand": true,
"transcript": "ENST00000885091.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 299,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000885092.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555151.1",
"strand": true,
"transcript": "ENST00000885092.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 529,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1590,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930529.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600588.1",
"strand": true,
"transcript": "ENST00000930529.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 513,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1542,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962088.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632147.1",
"strand": true,
"transcript": "ENST00000962088.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 468,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1407,
"cds_start": 26,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368612.3",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.26A>G",
"hgvs_p": "p.Gln9Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357601.1",
"strand": true,
"transcript": "ENST00000368612.3",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1152,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001143758.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137230.1",
"strand": true,
"transcript": "NM_001143758.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1152,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001143759.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137231.1",
"strand": true,
"transcript": "NM_001143759.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 383,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 363,
"cds_end": null,
"cds_length": 1152,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000344079.9",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342641.5",
"strand": true,
"transcript": "ENST00000344079.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 368,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": null,
"cds_end": null,
"cds_length": 1107,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001309474.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.-170A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001296403.1",
"strand": true,
"transcript": "NM_001309474.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8137,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011540208.2",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538510.1",
"strand": true,
"transcript": "XM_011540208.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8821,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047425785.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281741.1",
"strand": true,
"transcript": "XM_047425785.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 530,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 466,
"cds_end": null,
"cds_length": 1593,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047425786.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281742.1",
"strand": true,
"transcript": "XM_047425786.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 520,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2095,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1563,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011540209.3",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538511.1",
"strand": true,
"transcript": "XM_011540209.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 520,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1563,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047425787.1",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281743.1",
"strand": true,
"transcript": "XM_047425787.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 502,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 324,
"cds_end": null,
"cds_length": 1509,
"cds_start": 212,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017016690.3",
"gene_hgnc_id": 29346,
"gene_symbol": "LRRC27",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872179.1",
"strand": true,
"transcript": "XM_017016690.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 495,
"aa_ref": "Q",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 324,
"cds_end": null,
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