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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: 14-90610771-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90610771&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90610771,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001401365.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "NM_001010854.2",
"protein_id": "NP_001010854.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 843,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 19471,
"mane_select": "ENST00000328459.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010854.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "ENST00000328459.11",
"protein_id": "ENSP00000336127.4",
"transcript_support_level": 1,
"aa_start": 646,
"aa_end": null,
"aa_length": 843,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 19471,
"mane_select": "NM_001010854.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328459.11"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.347C>A",
"hgvs_p": "p.Thr116Asn",
"transcript": "ENST00000553972.5",
"protein_id": "ENSP00000451440.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 330,
"cds_start": 347,
"cds_end": null,
"cds_length": 993,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553972.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "NM_001401365.1",
"protein_id": "NP_001388294.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 914,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 19684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401365.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "ENST00000963264.1",
"protein_id": "ENSP00000633323.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 897,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963264.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "ENST00000963265.1",
"protein_id": "ENSP00000633324.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 868,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963265.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1961C>A",
"hgvs_p": "p.Thr654Asn",
"transcript": "ENST00000963266.1",
"protein_id": "ENSP00000633325.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 851,
"cds_start": 1961,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963266.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn",
"transcript": "ENST00000919976.1",
"protein_id": "ENSP00000590035.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 796,
"cds_start": 1937,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919976.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1631C>A",
"hgvs_p": "p.Thr544Asn",
"transcript": "NM_001320421.2",
"protein_id": "NP_001307350.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 758,
"cds_start": 1631,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 19518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320421.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.1613C>A",
"hgvs_p": "p.Thr538Asn",
"transcript": "ENST00000919977.1",
"protein_id": "ENSP00000590036.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 735,
"cds_start": 1613,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919977.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Thr2Asn",
"transcript": "ENST00000557292.1",
"protein_id": "ENSP00000452031.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 270,
"cds_start": 5,
"cds_end": null,
"cds_length": 813,
"cdna_start": 6,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557292.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "c.164C>A",
"hgvs_p": "p.Thr55Asn",
"transcript": "ENST00000555894.5",
"protein_id": "ENSP00000452594.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 164,
"cds_end": null,
"cds_length": 642,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "n.475C>A",
"hgvs_p": null,
"transcript": "ENST00000554654.5",
"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": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000554654.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "n.1160C>A",
"hgvs_p": null,
"transcript": "ENST00000555005.5",
"protein_id": "ENSP00000451825.1",
"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": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555005.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"hgvs_c": "n.*297C>A",
"hgvs_p": null,
"transcript": "ENST00000555239.5",
"protein_id": "ENSP00000450520.1",
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555239.5"
}
],
"gene_symbol": "TTC7B",
"gene_hgnc_id": 19858,
"dbsnp": "rs1271255599",
"frequency_reference_population": 0.0000105340905,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109462,
"gnomad_genomes_af": 0.00000657428,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4400709867477417,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.1682,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.639,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001401365.1",
"gene_symbol": "TTC7B",
"hgnc_id": 19858,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1937C>A",
"hgvs_p": "p.Thr646Asn"
}
],
"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
}