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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: 6-69697573-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=69697573&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 69697573,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000649934.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1407T>G",
"hgvs_p": "p.Asp469Glu",
"transcript": "NM_018368.4",
"protein_id": "NP_060838.3",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 540,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "ENST00000649934.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1407T>G",
"hgvs_p": "p.Asp469Glu",
"transcript": "ENST00000649934.3",
"protein_id": "ENSP00000497690.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 540,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "NM_018368.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000370570.6",
"protein_id": "ENSP00000359602.1",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1473T>G",
"hgvs_p": "p.Asp491Glu",
"transcript": "ENST00000649011.1",
"protein_id": "ENSP00000497575.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 562,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001363722.2",
"protein_id": "NP_001350651.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001367271.1",
"protein_id": "NP_001354200.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "NM_001367272.1",
"protein_id": "NP_001354201.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000647964.1",
"protein_id": "ENSP00000496784.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648168.1",
"protein_id": "ENSP00000498178.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648394.1",
"protein_id": "ENSP00000497302.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000648743.1",
"protein_id": "ENSP00000497135.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649028.1",
"protein_id": "ENSP00000498034.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649679.1",
"protein_id": "ENSP00000497387.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1533,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000649918.1",
"protein_id": "ENSP00000497487.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 2075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000650035.1",
"protein_id": "ENSP00000497703.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.1188T>G",
"hgvs_p": "p.Asp396Glu",
"transcript": "ENST00000650107.1",
"protein_id": "ENSP00000497124.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 467,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "c.150T>G",
"hgvs_p": "p.Asp50Glu",
"transcript": "ENST00000651675.1",
"protein_id": "ENSP00000498850.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 121,
"cds_start": 150,
"cds_end": null,
"cds_length": 366,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.*572T>G",
"hgvs_p": null,
"transcript": "ENST00000472827.2",
"protein_id": "ENSP00000433385.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.*904T>G",
"hgvs_p": null,
"transcript": "ENST00000647650.1",
"protein_id": "ENSP00000497808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.3010T>G",
"hgvs_p": null,
"transcript": "ENST00000647655.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.1727T>G",
"hgvs_p": null,
"transcript": "ENST00000647934.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.1218T>G",
"hgvs_p": null,
"transcript": "ENST00000648210.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMBRD1",
"gene_hgnc_id": 23038,
"hgvs_c": "n.1274T>G",
"hgvs_p": null,
"transcript": "ENST00000648265.1",
"protein_id": null,
"transcript_support_level": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.119,
"revel_prediction": "Benign",
"alphamissense_score": 0.0958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.435,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649934.3",
"gene_symbol": "LMBRD1",
"hgnc_id": 23038,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1407T>G",
"hgvs_p": "p.Asp469Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}