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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: 11-62729037-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62729037&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTC9C",
"hgnc_id": 28432,
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_173810.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 552,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_173810.4",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316461.9",
"protein_coding": true,
"protein_id": "NP_776171.1",
"strand": true,
"transcript": "NM_173810.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 552,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000316461.9",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173810.4",
"protein_coding": true,
"protein_id": "ENSP00000325266.3",
"strand": true,
"transcript": "ENST00000316461.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 310,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000532583.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434340.1",
"strand": true,
"transcript": "ENST00000532583.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000294161.10",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "n.189A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000294161.6",
"strand": true,
"transcript": "ENST00000294161.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 847,
"cdna_start": 266,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318812.2",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305741.1",
"strand": true,
"transcript": "NM_001318812.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1047,
"cdna_start": 466,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318813.2",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305742.1",
"strand": true,
"transcript": "NM_001318813.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1972,
"cdna_start": 584,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851206.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521265.1",
"strand": true,
"transcript": "ENST00000851206.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 898,
"cdna_start": 313,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851207.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521266.1",
"strand": true,
"transcript": "ENST00000851207.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 278,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851208.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521267.1",
"strand": true,
"transcript": "ENST00000851208.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 978,
"cdna_start": 397,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939223.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609282.1",
"strand": true,
"transcript": "ENST00000939223.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 171,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": 353,
"cds_end": null,
"cds_length": 516,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000939225.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609284.1",
"strand": true,
"transcript": "ENST00000939225.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 139,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 606,
"cdna_start": 374,
"cds_end": null,
"cds_length": 421,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530625.5",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435282.1",
"strand": true,
"transcript": "ENST00000530625.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 110,
"aa_ref": "Q",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 936,
"cdna_start": 540,
"cds_end": null,
"cds_length": 333,
"cds_start": 189,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000947257.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.189A>G",
"hgvs_p": "p.Gln63Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617316.1",
"strand": true,
"transcript": "ENST00000947257.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 189,
"aa_ref": "Q",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 909,
"cdna_start": 328,
"cds_end": null,
"cds_length": 570,
"cds_start": 243,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047426827.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.243A>G",
"hgvs_p": "p.Gln81Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282783.1",
"strand": true,
"transcript": "XM_047426827.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1129,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318814.2",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.-146A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305743.1",
"strand": true,
"transcript": "NM_001318814.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001318816.2",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.-146A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305745.1",
"strand": true,
"transcript": "NM_001318816.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 968,
"cdna_start": null,
"cds_end": null,
"cds_length": 363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851209.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.85+104A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521268.1",
"strand": true,
"transcript": "ENST00000851209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1271,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939224.1",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.81+108A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609283.1",
"strand": true,
"transcript": "ENST00000939224.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 87,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 890,
"cdna_start": null,
"cds_end": null,
"cds_length": 264,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001318815.2",
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"hgvs_c": "c.-15+108A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305744.1",
"strand": true,
"transcript": "NM_001318815.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs766968002",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000008054184,
"gene_hgnc_id": 28432,
"gene_symbol": "TTC9C",
"gnomad_exomes_ac": 12,
"gnomad_exomes_af": 0.00000820863,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657065,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.22,
"pos": 62729037,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_173810.4"
}
]
}