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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: 9-15177789-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=15177789&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 15177789,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152574.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1551T>A",
"hgvs_p": "p.Asp517Glu",
"transcript": "NM_152574.3",
"protein_id": "NP_689787.3",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 616,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000512701.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152574.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1551T>A",
"hgvs_p": "p.Asp517Glu",
"transcript": "ENST00000512701.7",
"protein_id": "ENSP00000422496.2",
"transcript_support_level": 2,
"aa_start": 517,
"aa_end": null,
"aa_length": 616,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152574.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512701.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "n.571T>A",
"hgvs_p": null,
"transcript": "ENST00000380853.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000380853.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1545T>A",
"hgvs_p": "p.Asp515Glu",
"transcript": "NM_001168339.2",
"protein_id": "NP_001161811.2",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 614,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168339.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1512T>A",
"hgvs_p": "p.Asp504Glu",
"transcript": "NM_001168340.2",
"protein_id": "NP_001161812.2",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 603,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168340.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1512T>A",
"hgvs_p": "p.Asp504Glu",
"transcript": "ENST00000380850.9",
"protein_id": "ENSP00000370231.5",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 603,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380850.9"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1485T>A",
"hgvs_p": "p.Asp495Glu",
"transcript": "ENST00000866788.1",
"protein_id": "ENSP00000536847.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 594,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866788.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1344T>A",
"hgvs_p": "p.Asp448Glu",
"transcript": "NM_001168341.2",
"protein_id": "NP_001161813.2",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 547,
"cds_start": 1344,
"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": "NM_001168341.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1344T>A",
"hgvs_p": "p.Asp448Glu",
"transcript": "ENST00000297615.10",
"protein_id": "ENSP00000297615.6",
"transcript_support_level": 2,
"aa_start": 448,
"aa_end": null,
"aa_length": 547,
"cds_start": 1344,
"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": "ENST00000297615.10"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1254T>A",
"hgvs_p": "p.Asp418Glu",
"transcript": "NM_001168342.2",
"protein_id": "NP_001161814.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 517,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168342.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1254T>A",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000507285.5",
"protein_id": "ENSP00000426539.1",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 517,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507285.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1254T>A",
"hgvs_p": "p.Asp418Glu",
"transcript": "ENST00000507993.5",
"protein_id": "ENSP00000423392.1",
"transcript_support_level": 2,
"aa_start": 418,
"aa_end": null,
"aa_length": 517,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507993.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1098T>A",
"hgvs_p": "p.Asp366Glu",
"transcript": "ENST00000911740.1",
"protein_id": "ENSP00000581799.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 465,
"cds_start": 1098,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911740.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1557T>A",
"hgvs_p": "p.Asp519Glu",
"transcript": "XM_047422828.1",
"protein_id": "XP_047278784.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 618,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422828.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_011517732.3",
"protein_id": "XP_011516034.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517732.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_017014312.2",
"protein_id": "XP_016869801.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014312.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_024447422.2",
"protein_id": "XP_024303190.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447422.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_024447423.2",
"protein_id": "XP_024303191.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447423.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_024447424.2",
"protein_id": "XP_024303192.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447424.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"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": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Asp486Glu",
"transcript": "XM_047422829.1",
"protein_id": "XP_047278785.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 585,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422829.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"hgvs_c": "c.1254T>A",
"hgvs_p": "p.Asp418Glu",
"transcript": "XM_024447425.2",
"protein_id": "XP_024303193.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 517,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447425.2"
}
],
"gene_symbol": "TTC39B",
"gene_hgnc_id": 23704,
"dbsnp": "rs1818024050",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7226496338844299,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.399,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8562,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.598,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_152574.3",
"gene_symbol": "TTC39B",
"hgnc_id": 23704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1551T>A",
"hgvs_p": "p.Asp517Glu"
}
],
"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
}