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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: 19-38879699-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38879699&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SIRT2",
"hgnc_id": 10886,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Asp294Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_012237.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.1749,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25266027450561523,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1170,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_012237.4",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Asp294Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000249396.12",
"protein_coding": true,
"protein_id": "NP_036369.2",
"strand": false,
"transcript": "NM_012237.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 389,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1170,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000249396.12",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Asp294Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012237.4",
"protein_coding": true,
"protein_id": "ENSP00000249396.7",
"strand": false,
"transcript": "ENST00000249396.12",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "D",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000392081.6",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375931.2",
"strand": false,
"transcript": "ENST00000392081.6",
"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": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000462654.5",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "n.1651G>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": "ENST00000462654.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 388,
"aa_ref": "D",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 989,
"cds_end": null,
"cds_length": 1167,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872149.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Asp294Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542208.1",
"strand": false,
"transcript": "ENST00000872149.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1164,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872147.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Asp292Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542206.1",
"strand": false,
"transcript": "ENST00000872147.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 373,
"aa_ref": "D",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1861,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1122,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000872146.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542205.1",
"strand": false,
"transcript": "ENST00000872146.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 363,
"aa_ref": "D",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1720,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1092,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000872151.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Asp268Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542210.1",
"strand": false,
"transcript": "ENST00000872151.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 357,
"aa_ref": "D",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1074,
"cds_start": 784,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872150.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.784G>A",
"hgvs_p": "p.Asp262Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542209.1",
"strand": false,
"transcript": "ENST00000872150.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "D",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_030593.3",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_085096.1",
"strand": false,
"transcript": "NM_030593.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 351,
"aa_ref": "D",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 853,
"cds_end": null,
"cds_length": 1056,
"cds_start": 766,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000941837.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.766G>A",
"hgvs_p": "p.Asp256Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611896.1",
"strand": false,
"transcript": "ENST00000941837.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 319,
"aa_ref": "D",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 960,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000872145.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Asp224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542204.1",
"strand": false,
"transcript": "ENST00000872145.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 318,
"aa_ref": "D",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 766,
"cds_end": null,
"cds_length": 957,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000941836.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Asp224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611895.1",
"strand": false,
"transcript": "ENST00000941836.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 317,
"aa_ref": "D",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 776,
"cds_end": null,
"cds_length": 954,
"cds_start": 664,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000872148.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.664G>A",
"hgvs_p": "p.Asp222Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542207.1",
"strand": false,
"transcript": "ENST00000872148.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 352,
"aa_ref": "D",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2722,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 1059,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047438468.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Asp257Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294424.1",
"strand": false,
"transcript": "XM_047438468.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 319,
"aa_ref": "D",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 767,
"cds_end": null,
"cds_length": 960,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011526655.2",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Asp224Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524957.1",
"strand": false,
"transcript": "XM_011526655.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": null,
"cds_end": null,
"cds_length": 909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047438469.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.*442G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294425.1",
"strand": false,
"transcript": "XM_047438469.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001193286.2",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.685-199G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180215.1",
"strand": false,
"transcript": "NM_001193286.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 234,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": null,
"cds_end": null,
"cds_length": 705,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358931.9",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "c.685-199G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351809.6",
"strand": false,
"transcript": "ENST00000358931.9",
"transcript_support_level": 5
},
{
"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": 4734,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000479290.5",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "n.3592G>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": "ENST00000479290.5",
"transcript_support_level": 2
},
{
"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": 606,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000496069.1",
"gene_hgnc_id": 10886,
"gene_symbol": "SIRT2",
"hgvs_c": "n.455G>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": "ENST00000496069.1",
"transcript_support_level": 2
},
{
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