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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: 18-24114557-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=24114557&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 24114557,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001135993.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "NM_001135993.2",
"protein_id": "NP_001129465.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 583,
"cds_start": 988,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317571.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135993.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "ENST00000317571.8",
"protein_id": "ENSP00000323645.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 583,
"cds_start": 988,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135993.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317571.8"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "ENST00000304621.10",
"protein_id": "ENSP00000306598.6",
"transcript_support_level": 1,
"aa_start": 269,
"aa_end": null,
"aa_length": 522,
"cds_start": 805,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304621.10"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "ENST00000919100.1",
"protein_id": "ENSP00000589159.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 582,
"cds_start": 988,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919100.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "ENST00000919101.1",
"protein_id": "ENSP00000589160.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 580,
"cds_start": 988,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919101.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "ENST00000919099.1",
"protein_id": "ENSP00000589158.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 547,
"cds_start": 988,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919099.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.817C>G",
"hgvs_p": "p.Gln273Glu",
"transcript": "ENST00000905386.1",
"protein_id": "ENSP00000575445.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 526,
"cds_start": 817,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905386.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "NM_153211.4",
"protein_id": "NP_694943.2",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 522,
"cds_start": 805,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153211.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "ENST00000905387.1",
"protein_id": "ENSP00000575446.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 505,
"cds_start": 988,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905387.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.349C>G",
"hgvs_p": "p.Gln117Glu",
"transcript": "ENST00000905385.1",
"protein_id": "ENSP00000575444.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 370,
"cds_start": 349,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905385.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.67C>G",
"hgvs_p": "p.Gln23Glu",
"transcript": "NM_001292030.2",
"protein_id": "NP_001278959.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 276,
"cds_start": 67,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292030.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.67C>G",
"hgvs_p": "p.Gln23Glu",
"transcript": "ENST00000540918.3",
"protein_id": "ENSP00000443016.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 276,
"cds_start": 67,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540918.3"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.889C>G",
"hgvs_p": "p.Gln297Glu",
"transcript": "XM_047437296.1",
"protein_id": "XP_047293252.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 550,
"cds_start": 889,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437296.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu",
"transcript": "XM_011525814.4",
"protein_id": "XP_011524116.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 547,
"cds_start": 988,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525814.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_047437297.1",
"protein_id": "XP_047293253.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 522,
"cds_start": 805,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437297.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.805C>G",
"hgvs_p": "p.Gln269Glu",
"transcript": "XM_047437298.1",
"protein_id": "XP_047293254.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 522,
"cds_start": 805,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"transcript": "ENST00000579214.1",
"protein_id": "ENSP00000463283.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "c.461-9277C>G",
"hgvs_p": null,
"transcript": "ENST00000905388.1",
"protein_id": "ENSP00000575447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905388.1"
},
{
"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": "TTC39C",
"gene_hgnc_id": 26595,
"hgvs_c": "n.35C>G",
"hgvs_p": null,
"transcript": "ENST00000581394.1",
"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": "ENST00000581394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264924",
"gene_hgnc_id": null,
"hgvs_c": "n.13-426G>C",
"hgvs_p": null,
"transcript": "ENST00000583782.1",
"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": "ENST00000583782.1"
}
],
"gene_symbol": "TTC39C",
"gene_hgnc_id": 26595,
"dbsnp": "rs147825390",
"frequency_reference_population": 0.000044006938,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000438005,
"gnomad_genomes_af": 0.0000459891,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0680575966835022,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.759,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_001135993.2",
"gene_symbol": "TTC39C",
"hgnc_id": 26595,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.988C>G",
"hgvs_p": "p.Gln330Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000583782.1",
"gene_symbol": "ENSG00000264924",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.13-426G>C",
"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
}