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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: 19-19132366-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19132366&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 19132366,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000162044.14",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Thr143Thr",
"transcript": "NM_017814.3",
"protein_id": "NP_060284.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 479,
"cds_start": 429,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": "ENST00000162044.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Thr143Thr",
"transcript": "ENST00000162044.14",
"protein_id": "ENSP00000162044.7",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 479,
"cds_start": 429,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": "NM_017814.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Thr118Thr",
"transcript": "NM_001411131.1",
"protein_id": "NP_001398060.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 454,
"cds_start": 354,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 404,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.354G>A",
"hgvs_p": "p.Thr118Thr",
"transcript": "ENST00000587583.6",
"protein_id": "ENSP00000467300.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 454,
"cds_start": 354,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Thr126Thr",
"transcript": "ENST00000587096.5",
"protein_id": "ENSP00000467649.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 314,
"cds_start": 378,
"cds_end": null,
"cds_length": 946,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Thr12Thr",
"transcript": "ENST00000587925.5",
"protein_id": "ENSP00000465840.2",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 193,
"cds_start": 36,
"cds_end": null,
"cds_length": 582,
"cdna_start": 36,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Thr126Thr",
"transcript": "ENST00000587915.1",
"protein_id": "ENSP00000467793.1",
"transcript_support_level": 4,
"aa_start": 126,
"aa_end": null,
"aa_length": 144,
"cds_start": 378,
"cds_end": null,
"cds_length": 435,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.54G>A",
"hgvs_p": "p.Thr18Thr",
"transcript": "ENST00000592369.1",
"protein_id": "ENSP00000476977.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 60,
"cds_start": 54,
"cds_end": null,
"cds_length": 184,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.378G>A",
"hgvs_p": "p.Thr126Thr",
"transcript": "XM_047439023.1",
"protein_id": "XP_047294979.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 462,
"cds_start": 378,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "n.494G>A",
"hgvs_p": null,
"transcript": "ENST00000587406.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "n.429G>A",
"hgvs_p": null,
"transcript": "ENST00000587985.6",
"protein_id": "ENSP00000476205.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "n.507G>A",
"hgvs_p": null,
"transcript": "ENST00000589448.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "n.*402G>A",
"hgvs_p": null,
"transcript": "ENST00000590216.6",
"protein_id": "ENSP00000465215.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "n.*402G>A",
"hgvs_p": null,
"transcript": "ENST00000590216.6",
"protein_id": "ENSP00000465215.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.286+291G>A",
"hgvs_p": null,
"transcript": "NM_001256766.3",
"protein_id": "NP_001243695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"hgvs_c": "c.286+291G>A",
"hgvs_p": null,
"transcript": "ENST00000450333.6",
"protein_id": "ENSP00000404208.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM161A",
"gene_hgnc_id": 26020,
"dbsnp": "rs964132",
"frequency_reference_population": 0.039045714,
"hom_count_reference_population": 3716,
"allele_count_reference_population": 62983,
"gnomad_exomes_af": 0.0387427,
"gnomad_genomes_af": 0.0419529,
"gnomad_exomes_ac": 56596,
"gnomad_genomes_ac": 6387,
"gnomad_exomes_homalt": 3291,
"gnomad_genomes_homalt": 425,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000162044.14",
"gene_symbol": "TMEM161A",
"hgnc_id": 26020,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Thr143Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}