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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: 8-13006294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=13006294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 13006294,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020844.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "NM_020844.3",
"protein_id": "NP_065895.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524591.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020844.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000524591.7",
"protein_id": "ENSP00000432695.1",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020844.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524591.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000855797.1",
"protein_id": "ENSP00000525856.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855797.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000966194.1",
"protein_id": "ENSP00000636253.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966194.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000966195.1",
"protein_id": "ENSP00000636254.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966195.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000966196.1",
"protein_id": "ENSP00000636255.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 454,
"cds_start": 92,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966196.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000447063.6",
"protein_id": "ENSP00000443288.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 196,
"cds_start": 92,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447063.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000400069.7",
"protein_id": "ENSP00000468715.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 60,
"cds_start": 92,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400069.7"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000528753.2",
"protein_id": "ENSP00000466330.1",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 60,
"cds_start": 92,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528753.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp",
"transcript": "ENST00000532376.2",
"protein_id": "ENSP00000431717.2",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 53,
"cds_start": 92,
"cds_end": null,
"cds_length": 163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532376.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC124901889",
"gene_hgnc_id": null,
"hgvs_c": "n.491+8046G>T",
"hgvs_p": null,
"transcript": "XR_007060825.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC124901889",
"gene_hgnc_id": null,
"hgvs_c": "n.494+8046G>T",
"hgvs_p": null,
"transcript": "XR_007060826.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC124901889",
"gene_hgnc_id": null,
"hgvs_c": "n.252+8046G>T",
"hgvs_p": null,
"transcript": "XR_007060827.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC124901889",
"gene_hgnc_id": null,
"hgvs_c": "n.255+8046G>T",
"hgvs_p": null,
"transcript": "XR_007060828.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC124901889",
"gene_hgnc_id": null,
"hgvs_c": "n.491+8046G>T",
"hgvs_p": null,
"transcript": "XR_007060829.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"hgvs_c": "c.*61C>A",
"hgvs_p": null,
"transcript": "ENST00000528335.6",
"protein_id": "ENSP00000518785.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 9,
"cds_start": null,
"cds_end": null,
"cds_length": 31,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528335.6"
}
],
"gene_symbol": "TRMT9B",
"gene_hgnc_id": 26725,
"dbsnp": "rs781662547",
"frequency_reference_population": 0.000014252323,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000150528,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6090013980865479,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.112,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020844.3",
"gene_symbol": "TRMT9B",
"hgnc_id": 26725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.92C>A",
"hgvs_p": "p.Ala31Asp"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007060825.1",
"gene_symbol": "LOC124901889",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.491+8046G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}