← Back to variant description
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: 4-99549209-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=99549209&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 99549209,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000394876.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "NM_001134665.3",
"protein_id": "NP_001128137.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": "ENST00000394876.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "ENST00000394876.7",
"protein_id": "ENSP00000378342.2",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": "NM_001134665.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "ENST00000273962.7",
"protein_id": "ENSP00000273962.3",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "NM_001134666.3",
"protein_id": "NP_001128138.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "NM_001375880.1",
"protein_id": "NP_001362809.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "NM_001375881.1",
"protein_id": "NP_001362810.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "NM_152292.5",
"protein_id": "NP_689505.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "ENST00000394877.7",
"protein_id": "ENSP00000378343.3",
"transcript_support_level": 2,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Gly293Asp",
"transcript": "NM_001375882.1",
"protein_id": "NP_001362811.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 332,
"cds_start": 878,
"cds_end": null,
"cds_length": 999,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp",
"transcript": "XM_047416418.1",
"protein_id": "XP_047272374.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 339,
"cds_start": 899,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRMT10A",
"gene_hgnc_id": 28403,
"dbsnp": "rs771561899",
"frequency_reference_population": 0.000018587061,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000171017,
"gnomad_genomes_af": 0.0000328545,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020214200019836426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.296,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394876.7",
"gene_symbol": "TRMT10A",
"hgnc_id": 28403,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Gly300Asp"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}