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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: 17-15628938-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15628938&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 15628938,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000649191.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "NM_001348119.1",
"protein_id": "NP_001335048.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": "ENST00000649191.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "ENST00000649191.2",
"protein_id": "ENSP00000497185.2",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": "NM_001348119.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "ENST00000336708.11",
"protein_id": "ENSP00000338989.7",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "ENST00000577886.5",
"protein_id": "ENSP00000462903.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 348,
"cds_start": 724,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000251537",
"gene_hgnc_id": null,
"hgvs_c": "c.1283+89A>G",
"hgvs_p": null,
"transcript": "ENST00000455584.2",
"protein_id": "ENSP00000402644.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "NM_001348120.1",
"protein_id": "NP_001335049.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "NM_006470.4",
"protein_id": "NP_006461.3",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly",
"transcript": "ENST00000578237.5",
"protein_id": "ENSP00000463188.1",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 564,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ser328Gly",
"transcript": "NM_001348121.1",
"protein_id": "NP_001335050.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 434,
"cds_start": 982,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"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": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ser328Gly",
"transcript": "NM_001348122.1",
"protein_id": "NP_001335051.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 434,
"cds_start": 982,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.982A>G",
"hgvs_p": "p.Ser328Gly",
"transcript": "ENST00000416464.6",
"protein_id": "ENSP00000399918.2",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 434,
"cds_start": 982,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.886A>G",
"hgvs_p": "p.Ser296Gly",
"transcript": "NM_001348126.1",
"protein_id": "NP_001335055.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 402,
"cds_start": 886,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "NM_001348124.1",
"protein_id": "NP_001335053.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 348,
"cds_start": 724,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.724A>G",
"hgvs_p": "p.Ser242Gly",
"transcript": "NM_001348125.1",
"protein_id": "NP_001335054.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 348,
"cds_start": 724,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Ser211Gly",
"transcript": "ENST00000577446.5",
"protein_id": "ENSP00000467031.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 232,
"cds_start": 631,
"cds_end": null,
"cds_length": 699,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 791,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "n.678A>G",
"hgvs_p": null,
"transcript": "ENST00000577326.1",
"protein_id": null,
"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": 920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.*39A>G",
"hgvs_p": null,
"transcript": "ENST00000579219.5",
"protein_id": "ENSP00000463639.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "TRIM16",
"gene_hgnc_id": 17241,
"hgvs_c": "c.*223A>G",
"hgvs_p": null,
"transcript": "ENST00000580110.5",
"protein_id": "ENSP00000464072.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM16",
"gene_hgnc_id": 17241,
"dbsnp": "rs145223236",
"frequency_reference_population": 0.000004788309,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478831,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12772849202156067,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.0619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.183,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649191.2",
"gene_symbol": "TRIM16",
"hgnc_id": 17241,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1372A>G",
"hgvs_p": "p.Ser458Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000455584.2",
"gene_symbol": "ENSG00000251537",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1283+89A>G",
"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
}