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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: 8-38392806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38392806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LETM2",
"hgnc_id": 14648,
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001286819.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286819.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379957.9",
"protein_coding": true,
"protein_id": "NP_001273748.1",
"strand": true,
"transcript": "NM_001286819.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000379957.9",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286819.2",
"protein_coding": true,
"protein_id": "ENSP00000369291.4",
"strand": true,
"transcript": "ENST00000379957.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "S",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1335,
"cds_start": 171,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000523983.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Ser57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428765.2",
"strand": true,
"transcript": "ENST00000523983.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 173,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 612,
"cds_end": null,
"cds_length": 522,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000519476.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429269.2",
"strand": true,
"transcript": "ENST00000519476.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000523268.6",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "n.312C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428944.2",
"strand": true,
"transcript": "ENST00000523268.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": 686,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000948387.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618446.1",
"strand": true,
"transcript": "ENST00000948387.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "S",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1335,
"cds_start": 171,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199659.3",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Ser57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186588.1",
"strand": true,
"transcript": "NM_001199659.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2712,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1332,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001330515.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317444.1",
"strand": true,
"transcript": "NM_001330515.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1332,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524874.5",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431211.1",
"strand": true,
"transcript": "ENST00000524874.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "S",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1191,
"cds_start": 171,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_144652.4",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Ser57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653253.1",
"strand": true,
"transcript": "NM_144652.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 396,
"aa_ref": "S",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1191,
"cds_start": 171,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000297720.9",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.171C>T",
"hgvs_p": "p.Ser57Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000297720.5",
"strand": true,
"transcript": "ENST00000297720.9",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 338,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1017,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889546.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559605.1",
"strand": true,
"transcript": "ENST00000889546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 173,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 439,
"cds_end": null,
"cds_length": 522,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001286821.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273750.1",
"strand": true,
"transcript": "NM_001286821.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 141,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 439,
"cds_end": null,
"cds_length": 427,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526356.1",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432955.1",
"strand": true,
"transcript": "ENST00000526356.1",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 115,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": 520,
"cds_end": null,
"cds_length": 349,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527334.5",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432080.1",
"strand": true,
"transcript": "ENST00000527334.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013051.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868540.1",
"strand": true,
"transcript": "XM_017013051.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 439,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013052.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868541.1",
"strand": true,
"transcript": "XM_017013052.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6534,
"cdna_start": 4117,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013053.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868542.1",
"strand": true,
"transcript": "XM_017013053.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 399,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013054.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868543.1",
"strand": true,
"transcript": "XM_017013054.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013055.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868544.1",
"strand": true,
"transcript": "XM_017013055.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 491,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1476,
"cds_start": 312,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017013056.2",
"gene_hgnc_id": 14648,
"gene_symbol": "LETM2",
"hgvs_c": "c.312C>T",
"hgvs_p": "p.Ser104Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868545.1",
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