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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: X-103630192-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103630192&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 103630192,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_004780.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "NM_004780.3",
"protein_id": "NP_004771.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": "ENST00000372625.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004780.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000372625.8",
"protein_id": "ENSP00000361708.3",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": "NM_004780.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372625.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000372624.3",
"protein_id": "ENSP00000361707.3",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372624.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "n.741A>G",
"hgvs_p": null,
"transcript": "ENST00000469820.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 766,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000469820.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "NM_001006639.2",
"protein_id": "NP_001006640.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006639.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "NM_001006640.2",
"protein_id": "NP_001006641.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006640.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000372626.7",
"protein_id": "ENSP00000361709.3",
"transcript_support_level": 2,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372626.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868027.1",
"protein_id": "ENSP00000538086.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868027.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868028.1",
"protein_id": "ENSP00000538087.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868028.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868029.1",
"protein_id": "ENSP00000538088.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868029.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868030.1",
"protein_id": "ENSP00000538089.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868030.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868031.1",
"protein_id": "ENSP00000538090.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868031.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868032.1",
"protein_id": "ENSP00000538091.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868032.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868033.1",
"protein_id": "ENSP00000538092.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868033.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868034.1",
"protein_id": "ENSP00000538093.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868034.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000868035.1",
"protein_id": "ENSP00000538094.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868035.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val",
"transcript": "ENST00000964759.1",
"protein_id": "ENSP00000634818.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 159,
"cds_start": 276,
"cds_end": null,
"cds_length": 480,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 1180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964759.1"
}
],
"gene_symbol": "TCEAL1",
"gene_hgnc_id": 11616,
"dbsnp": "rs767267315",
"frequency_reference_population": 0.000023961655,
"hom_count_reference_population": 7,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000254954,
"gnomad_genomes_af": 0.00000892626,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.113,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004780.3",
"gene_symbol": "TCEAL1",
"hgnc_id": 11616,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Val92Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}