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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: 17-78175087-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78175087&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78175087,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001363848.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "NM_003258.5",
"protein_id": "NP_003249.3",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 234,
"cds_start": 476,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301634.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003258.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "ENST00000301634.12",
"protein_id": "ENSP00000301634.6",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 234,
"cds_start": 476,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003258.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301634.12"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "NM_001363848.1",
"protein_id": "NP_001350777.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 267,
"cds_start": 476,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363848.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "ENST00000588734.6",
"protein_id": "ENSP00000468425.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 267,
"cds_start": 476,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588734.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Glu185Gly",
"transcript": "ENST00000944215.1",
"protein_id": "ENSP00000614274.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 260,
"cds_start": 554,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944215.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "ENST00000944214.1",
"protein_id": "ENSP00000614273.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 232,
"cds_start": 476,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944214.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Glu143Gly",
"transcript": "ENST00000935506.1",
"protein_id": "ENSP00000605565.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 218,
"cds_start": 428,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935506.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.500A>G",
"hgvs_p": "p.Glu167Gly",
"transcript": "ENST00000586613.1",
"protein_id": "ENSP00000468278.1",
"transcript_support_level": 3,
"aa_start": 167,
"aa_end": null,
"aa_length": 186,
"cds_start": 500,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586613.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "NM_001346663.2",
"protein_id": "NP_001333592.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 180,
"cds_start": 476,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346663.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "ENST00000590862.5",
"protein_id": "ENSP00000468556.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 180,
"cds_start": 476,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590862.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly",
"transcript": "ENST00000853515.1",
"protein_id": "ENSP00000523574.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 179,
"cds_start": 476,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.*118A>G",
"hgvs_p": null,
"transcript": "ENST00000590430.5",
"protein_id": "ENSP00000467121.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 87,
"cds_start": null,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590430.5"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.394-137A>G",
"hgvs_p": null,
"transcript": "ENST00000935505.1",
"protein_id": "ENSP00000605564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935505.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "c.394-299A>G",
"hgvs_p": null,
"transcript": "ENST00000935504.1",
"protein_id": "ENSP00000605563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935504.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"hgvs_c": "n.613A>G",
"hgvs_p": null,
"transcript": "ENST00000592126.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592126.1"
}
],
"gene_symbol": "TK1",
"gene_hgnc_id": 11830,
"dbsnp": "rs202174305",
"frequency_reference_population": 0.000004958534,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342145,
"gnomad_genomes_af": 0.0000197353,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39048629999160767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.87,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363848.1",
"gene_symbol": "TK1",
"hgnc_id": 11830,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.476A>G",
"hgvs_p": "p.Glu159Gly"
}
],
"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
}