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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: 12-57782803-TGTCGCTGCTGCG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57782803&ref=TGTCGCTGCTGCG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57782803,
"ref": "TGTCGCTGCTGCG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000652027.2",
"consequences": [
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "NM_005726.6",
"protein_id": "NP_005717.3",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 325,
"cds_start": 11,
"cds_end": null,
"cds_length": 978,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "ENST00000652027.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000652027.2",
"protein_id": "ENSP00000499171.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 325,
"cds_start": 11,
"cds_end": null,
"cds_length": 978,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 1997,
"mane_select": "NM_005726.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000323833.12",
"protein_id": "ENSP00000313877.8",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 346,
"cds_start": 11,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 37,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000543727.5",
"protein_id": "ENSP00000439342.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 215,
"cds_start": 11,
"cds_end": null,
"cds_length": 648,
"cdna_start": 14,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257921",
"gene_hgnc_id": null,
"hgvs_c": "c.77-298_77-287delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000546504.1",
"protein_id": "ENSP00000449544.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "NM_001172696.2",
"protein_id": "NP_001166167.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 346,
"cds_start": 11,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000550559.5",
"protein_id": "ENSP00000448575.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 230,
"cds_start": 11,
"cds_end": null,
"cds_length": 693,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "NM_001172697.2",
"protein_id": "NP_001166168.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 215,
"cds_start": 11,
"cds_end": null,
"cds_length": 648,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000548851.5",
"protein_id": "ENSP00000450041.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 200,
"cds_start": 11,
"cds_end": null,
"cds_length": 603,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "NM_001172695.2",
"protein_id": "NP_001166166.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 167,
"cds_start": 11,
"cds_end": null,
"cds_length": 504,
"cdna_start": 26,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRSLR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del",
"transcript": "ENST00000540550.6",
"protein_id": "ENSP00000440987.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 167,
"cds_start": 11,
"cds_end": null,
"cds_length": 504,
"cdna_start": 52,
"cdna_end": null,
"cdna_length": 1935,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "n.11_22delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000417094.5",
"protein_id": "ENSP00000406339.1",
"transcript_support_level": 4,
"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": 558,
"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": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "n.11_22delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000651066.1",
"protein_id": "ENSP00000499143.1",
"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": 2534,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "n.11_22delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000651899.1",
"protein_id": "ENSP00000498993.1",
"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": 1085,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.-189_-178delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000457189.1",
"protein_id": "ENSP00000389162.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 689,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.-159_-148delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000434359.5",
"protein_id": "ENSP00000390679.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": -4,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257921",
"gene_hgnc_id": null,
"hgvs_c": "n.101-298_101-287delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000471530.5",
"protein_id": "ENSP00000449309.1",
"transcript_support_level": 5,
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257921",
"gene_hgnc_id": null,
"hgvs_c": "n.78-298_78-287delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000553083.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257921",
"gene_hgnc_id": null,
"hgvs_c": "n.290-298_290-287delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000651284.1",
"protein_id": "ENSP00000499064.1",
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"non_coding_transcript_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.-189_-178delTGCGGTCGCTGC",
"hgvs_p": null,
"transcript": "ENST00000457189.1",
"protein_id": "ENSP00000389162.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "c.-197_-186delGTCGCTGCTGCG",
"hgvs_p": null,
"transcript": "ENST00000457189.1",
"protein_id": "ENSP00000389162.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 689,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"hgvs_c": "n.-77_-66delGTCGCTGCTGCG",
"hgvs_p": null,
"transcript": "ENST00000497617.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TSFM",
"gene_hgnc_id": 12367,
"dbsnp": "rs1199036464",
"frequency_reference_population": 0.000004401215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000417169,
"gnomad_genomes_af": 0.00000657013,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.013,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652027.2",
"gene_symbol": "TSFM",
"hgnc_id": 12367,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11_22delTGCGGTCGCTGC",
"hgvs_p": "p.Leu4_Leu7del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000546504.1",
"gene_symbol": "ENSG00000257921",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.77-298_77-287delTGCGGTCGCTGC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}