← Back to variant description
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: 5-160010614-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=160010614&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 160010614,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000231238.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "NM_003314.3",
"protein_id": "NP_003305.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 292,
"cds_start": 86,
"cds_end": null,
"cds_length": 879,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": "ENST00000231238.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000231238.10",
"protein_id": "ENSP00000231238.4",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 292,
"cds_start": 86,
"cds_end": null,
"cds_length": 879,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": "NM_003314.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "NM_001282500.2",
"protein_id": "NP_001269429.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 292,
"cds_start": 86,
"cds_end": null,
"cds_length": 879,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000522793.5",
"protein_id": "ENSP00000429225.1",
"transcript_support_level": 5,
"aa_start": 29,
"aa_end": null,
"aa_length": 292,
"cds_start": 86,
"cds_end": null,
"cds_length": 879,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000682719.1",
"protein_id": "ENSP00000507891.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 292,
"cds_start": 86,
"cds_end": null,
"cds_length": 879,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000684137.1",
"protein_id": "ENSP00000507868.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 232,
"cds_start": 86,
"cds_end": null,
"cds_length": 699,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000683219.1",
"protein_id": "ENSP00000507941.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 224,
"cds_start": 86,
"cds_end": null,
"cds_length": 675,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly",
"transcript": "ENST00000684018.1",
"protein_id": "ENSP00000506758.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 183,
"cds_start": 86,
"cds_end": null,
"cds_length": 552,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.184C>G",
"hgvs_p": null,
"transcript": "ENST00000682151.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.86C>G",
"hgvs_p": null,
"transcript": "ENST00000682172.1",
"protein_id": "ENSP00000508176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.178C>G",
"hgvs_p": null,
"transcript": "ENST00000682220.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.182C>G",
"hgvs_p": null,
"transcript": "ENST00000682245.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.182C>G",
"hgvs_p": null,
"transcript": "ENST00000684515.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "c.-224C>G",
"hgvs_p": null,
"transcript": "ENST00000682131.1",
"protein_id": "ENSP00000506992.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"hgvs_c": "n.-44C>G",
"hgvs_p": null,
"transcript": "ENST00000683631.1",
"protein_id": "ENSP00000507564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TTC1",
"gene_hgnc_id": 12391,
"dbsnp": "rs41275305",
"frequency_reference_population": 0.008014903,
"hom_count_reference_population": 123,
"allele_count_reference_population": 12937,
"gnomad_exomes_af": 0.00764595,
"gnomad_genomes_af": 0.0115563,
"gnomad_exomes_ac": 11177,
"gnomad_genomes_ac": 1760,
"gnomad_exomes_homalt": 100,
"gnomad_genomes_homalt": 23,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002378910779953003,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.172,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000231238.10",
"gene_symbol": "TTC1",
"hgnc_id": 12391,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86C>G",
"hgvs_p": "p.Ala29Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}