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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: 17-16025157-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16025157&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16025157,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_017775.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Glu273*",
"transcript": "NM_017775.4",
"protein_id": "NP_060245.3",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 380,
"cds_start": 817,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261647.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017775.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Glu273*",
"transcript": "ENST00000261647.10",
"protein_id": "ENSP00000261647.5",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 380,
"cds_start": 817,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017775.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261647.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.4G>T",
"hgvs_p": "p.Glu2*",
"transcript": "ENST00000578103.1",
"protein_id": "ENSP00000468372.1",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 62,
"cds_start": 4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "n.540G>T",
"hgvs_p": null,
"transcript": "ENST00000465567.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465567.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Glu312*",
"transcript": "ENST00000873205.1",
"protein_id": "ENSP00000543264.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 419,
"cds_start": 934,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873205.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.832G>T",
"hgvs_p": "p.Glu278*",
"transcript": "ENST00000873204.1",
"protein_id": "ENSP00000543263.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 385,
"cds_start": 832,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873204.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.814G>T",
"hgvs_p": "p.Glu272*",
"transcript": "ENST00000918096.1",
"protein_id": "ENSP00000588155.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 379,
"cds_start": 814,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918096.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.778G>T",
"hgvs_p": "p.Glu260*",
"transcript": "ENST00000873206.1",
"protein_id": "ENSP00000543265.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 367,
"cds_start": 778,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873206.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.760G>T",
"hgvs_p": "p.Glu254*",
"transcript": "ENST00000873207.1",
"protein_id": "ENSP00000543266.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 361,
"cds_start": 760,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873207.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.706G>T",
"hgvs_p": "p.Glu236*",
"transcript": "ENST00000971711.1",
"protein_id": "ENSP00000641770.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 343,
"cds_start": 706,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971711.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Glu166*",
"transcript": "NM_001271420.2",
"protein_id": "NP_001258349.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 273,
"cds_start": 496,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271420.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.70G>T",
"hgvs_p": "p.Glu24*",
"transcript": "ENST00000470649.1",
"protein_id": "ENSP00000465627.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 99,
"cds_start": 70,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470649.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Glu273*",
"transcript": "XM_017024801.3",
"protein_id": "XP_016880290.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 348,
"cds_start": 817,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024801.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Glu273*",
"transcript": "XM_017024802.3",
"protein_id": "XP_016880291.2",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 335,
"cds_start": 817,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024802.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "n.*501G>T",
"hgvs_p": null,
"transcript": "ENST00000475723.5",
"protein_id": "ENSP00000465754.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000475723.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "n.1485G>T",
"hgvs_p": null,
"transcript": "ENST00000481107.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000481107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "n.1021G>T",
"hgvs_p": null,
"transcript": "ENST00000497842.6",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000497842.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"hgvs_c": "n.*501G>T",
"hgvs_p": null,
"transcript": "ENST00000475723.5",
"protein_id": "ENSP00000465754.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000475723.5"
}
],
"gene_symbol": "TTC19",
"gene_hgnc_id": 26006,
"dbsnp": "rs1555530551",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"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": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.44,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_017775.4",
"gene_symbol": "TTC19",
"hgnc_id": 26006,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.817G>T",
"hgvs_p": "p.Glu273*"
}
],
"clinvar_disease": "Mitochondrial complex III deficiency nuclear type 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Mitochondrial complex III deficiency nuclear type 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}