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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: 14-37804717-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=37804717&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 37804717,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001310135.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Ile1356Ser",
"transcript": "NM_001310135.5",
"protein_id": "NP_001297064.2",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1886,
"cds_start": 4067,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553443.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001310135.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Ile1356Ser",
"transcript": "ENST00000553443.6",
"protein_id": "ENSP00000451131.1",
"transcript_support_level": 5,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1886,
"cds_start": 4067,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001310135.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553443.6"
},
{
"aa_ref": "I",
"aa_alt": "S",
"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": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.209T>G",
"hgvs_p": "p.Ile70Ser",
"transcript": "ENST00000382320.4",
"protein_id": "ENSP00000371757.4",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 600,
"cds_start": 209,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382320.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.260T>G",
"hgvs_p": "p.Ile87Ser",
"transcript": "NM_001368142.2",
"protein_id": "NP_001355071.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 520,
"cds_start": 260,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368142.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.260T>G",
"hgvs_p": "p.Ile87Ser",
"transcript": "ENST00000267368.11",
"protein_id": "ENSP00000267368.7",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 520,
"cds_start": 260,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267368.11"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.260T>G",
"hgvs_p": "p.Ile87Ser",
"transcript": "ENST00000476979.5",
"protein_id": "ENSP00000417788.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 520,
"cds_start": 260,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476979.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Ile1356Ser",
"transcript": "XM_047431332.1",
"protein_id": "XP_047287288.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4067,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431332.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Ile1356Ser",
"transcript": "XM_047431333.1",
"protein_id": "XP_047287289.1",
"transcript_support_level": null,
"aa_start": 1356,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4067,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431333.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4115T>G",
"hgvs_p": "p.Ile1372Ser",
"transcript": "XM_017021254.2",
"protein_id": "XP_016876743.1",
"transcript_support_level": null,
"aa_start": 1372,
"aa_end": null,
"aa_length": 1852,
"cds_start": 4115,
"cds_end": null,
"cds_length": 5559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021254.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.3116T>G",
"hgvs_p": "p.Ile1039Ser",
"transcript": "XM_017021256.2",
"protein_id": "XP_016876745.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1577,
"cds_start": 3116,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021256.2"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.3116T>G",
"hgvs_p": "p.Ile1039Ser",
"transcript": "XM_047431334.1",
"protein_id": "XP_047287290.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1577,
"cds_start": 3116,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431334.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.2354T>G",
"hgvs_p": "p.Ile785Ser",
"transcript": "XM_011537431.3",
"protein_id": "XP_011535733.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 1323,
"cds_start": 2354,
"cds_end": null,
"cds_length": 3972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537431.3"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.2018T>G",
"hgvs_p": "p.Ile673Ser",
"transcript": "XM_047431336.1",
"protein_id": "XP_047287292.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 1211,
"cds_start": 2018,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431336.1"
},
{
"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": 31,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "c.4078-2603T>G",
"hgvs_p": null,
"transcript": "XM_017021255.2",
"protein_id": "XP_016876744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1807,
"cds_start": null,
"cds_end": null,
"cds_length": 5424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021255.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "n.260T>G",
"hgvs_p": null,
"transcript": "ENST00000478811.6",
"protein_id": "ENSP00000419204.2",
"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": "ENST00000478811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "n.4542T>G",
"hgvs_p": null,
"transcript": "XR_007064009.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007064009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"hgvs_c": "n.*1062+65562T>G",
"hgvs_p": null,
"transcript": "ENST00000533625.5",
"protein_id": "ENSP00000451566.1",
"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": "ENST00000533625.5"
}
],
"gene_symbol": "TTC6",
"gene_hgnc_id": 19739,
"dbsnp": "rs12896790",
"frequency_reference_population": 0.0895217,
"hom_count_reference_population": 7403,
"allele_count_reference_population": 144478,
"gnomad_exomes_af": 0.0917631,
"gnomad_genomes_af": 0.0680126,
"gnomad_exomes_ac": 134119,
"gnomad_genomes_ac": 10359,
"gnomad_exomes_homalt": 6881,
"gnomad_genomes_homalt": 522,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018881261348724365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.311,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001310135.5",
"gene_symbol": "TTC6",
"hgnc_id": 19739,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4067T>G",
"hgvs_p": "p.Ile1356Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}