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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: 22-37755132-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37755132&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37755132,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000644935.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.5519G>T",
"hgvs_p": "p.Arg1840Leu",
"transcript": "NM_001039141.3",
"protein_id": "NP_001034230.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 2365,
"cds_start": 5519,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 5730,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "ENST00000644935.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.5519G>T",
"hgvs_p": "p.Arg1840Leu",
"transcript": "ENST00000644935.1",
"protein_id": "ENSP00000496394.1",
"transcript_support_level": null,
"aa_start": 1840,
"aa_end": null,
"aa_length": 2365,
"cds_start": 5519,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 5730,
"cdna_end": null,
"cdna_length": 10085,
"mane_select": "NM_001039141.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "ENST00000403663.6",
"protein_id": "ENSP00000386026.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 652,
"cds_start": 380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "ENST00000407319.7",
"protein_id": "ENSP00000383913.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 431,
"cds_start": 380,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "NM_007032.5",
"protein_id": "NP_008963.3",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 652,
"cds_start": 380,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Arg127Leu",
"transcript": "NM_138632.2",
"protein_id": "NP_619538.2",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 431,
"cds_start": 380,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.239G>T",
"hgvs_p": "p.Arg80Leu",
"transcript": "ENST00000428075.5",
"protein_id": "ENSP00000399006.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 309,
"cds_start": 239,
"cds_end": null,
"cds_length": 930,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.257G>T",
"hgvs_p": "p.Arg86Leu",
"transcript": "ENST00000418339.5",
"protein_id": "ENSP00000396946.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 264,
"cds_start": 257,
"cds_end": null,
"cds_length": 795,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"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": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.167G>T",
"hgvs_p": "p.Arg56Leu",
"transcript": "ENST00000417857.1",
"protein_id": "ENSP00000387881.1",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 255,
"cds_start": 167,
"cds_end": null,
"cds_length": 770,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "c.167G>T",
"hgvs_p": "p.Arg56Leu",
"transcript": "ENST00000452519.5",
"protein_id": "ENSP00000407542.1",
"transcript_support_level": 4,
"aa_start": 56,
"aa_end": null,
"aa_length": 82,
"cds_start": 167,
"cds_end": null,
"cds_length": 250,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.135G>T",
"hgvs_p": null,
"transcript": "ENST00000331103.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*5002G>T",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"transcript_support_level": 2,
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*76G>T",
"hgvs_p": null,
"transcript": "ENST00000413051.2",
"protein_id": "ENSP00000400680.2",
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*5002G>T",
"hgvs_p": null,
"transcript": "ENST00000344404.10",
"protein_id": "ENSP00000340312.6",
"transcript_support_level": 2,
"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": 7300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"hgvs_c": "n.*76G>T",
"hgvs_p": null,
"transcript": "ENST00000413051.2",
"protein_id": "ENSP00000400680.2",
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIOBP",
"gene_hgnc_id": 17009,
"dbsnp": "rs376340052",
"frequency_reference_population": 0.000042139287,
"hom_count_reference_population": 2,
"allele_count_reference_population": 68,
"gnomad_exomes_af": 0.000045842,
"gnomad_genomes_af": 0.00000657229,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49673306941986084,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.683,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6955,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.977,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644935.1",
"gene_symbol": "TRIOBP",
"hgnc_id": 17009,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5519G>T",
"hgvs_p": "p.Arg1840Leu"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 28",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 28",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}