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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: X-50607728-TTCCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=50607728&ref=TTCCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"frameshift_variant"
],
"gene_symbol": "SHROOM4",
"hgnc_id": 29215,
"hgvs_c": "c.3409_3413delGAGGA",
"hgvs_p": "p.Glu1137fs",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_020717.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1493,
"aa_ref": "EE",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14557,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4482,
"cds_start": 3409,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020717.5",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3409_3413delGAGGA",
"hgvs_p": "p.Glu1137fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376020.9",
"protein_coding": true,
"protein_id": "NP_065768.2",
"strand": false,
"transcript": "NM_020717.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1493,
"aa_ref": "EE",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14557,
"cdna_start": 3589,
"cds_end": null,
"cds_length": 4482,
"cds_start": 3409,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376020.9",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3409_3413delGAGGA",
"hgvs_p": "p.Glu1137fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020717.5",
"protein_coding": true,
"protein_id": "ENSP00000365188.2",
"strand": false,
"transcript": "ENST00000376020.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1493,
"aa_ref": "EE",
"aa_start": 1137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 3697,
"cds_end": null,
"cds_length": 4482,
"cds_start": 3409,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000289292.11",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3409_3413delGAGGA",
"hgvs_p": "p.Glu1137fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000289292.7",
"strand": false,
"transcript": "ENST00000289292.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1448,
"aa_ref": "EE",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9476,
"cdna_start": 3381,
"cds_end": null,
"cds_length": 4347,
"cds_start": 3274,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898514.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3274_3278delGAGGA",
"hgvs_p": "p.Glu1092fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568573.1",
"strand": false,
"transcript": "ENST00000898514.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1377,
"aa_ref": "EE",
"aa_start": 1021,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8919,
"cdna_start": 3520,
"cds_end": null,
"cds_length": 4134,
"cds_start": 3061,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000460112.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3061_3065delGAGGA",
"hgvs_p": "p.Glu1021fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421450.1",
"strand": false,
"transcript": "ENST00000460112.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1531,
"aa_ref": "EE",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14671,
"cdna_start": 3703,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3523,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017029682.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3523_3527delGAGGA",
"hgvs_p": "p.Glu1175fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885171.1",
"strand": false,
"transcript": "XM_017029682.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1486,
"aa_ref": "EE",
"aa_start": 1130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14536,
"cdna_start": 3568,
"cds_end": null,
"cds_length": 4461,
"cds_start": 3388,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017029683.2",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3388_3392delGAGGA",
"hgvs_p": "p.Glu1130fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885172.1",
"strand": false,
"transcript": "XM_017029683.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1448,
"aa_ref": "EE",
"aa_start": 1092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14422,
"cdna_start": 3454,
"cds_end": null,
"cds_length": 4347,
"cds_start": 3274,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047442279.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3274_3278delGAGGA",
"hgvs_p": "p.Glu1092fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298235.1",
"strand": false,
"transcript": "XM_047442279.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1415,
"aa_ref": "EE",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14591,
"cdna_start": 3623,
"cds_end": null,
"cds_length": 4248,
"cds_start": 3175,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017029684.2",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3175_3179delGAGGA",
"hgvs_p": "p.Glu1059fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885173.1",
"strand": false,
"transcript": "XM_017029684.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1398,
"aa_ref": "EE",
"aa_start": 1175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4474,
"cdna_start": 3703,
"cds_end": null,
"cds_length": 4197,
"cds_start": 3523,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017029685.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "c.3523_3527delGAGGA",
"hgvs_p": "p.Glu1175fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885174.1",
"strand": false,
"transcript": "XM_017029685.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 11004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_027121.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3585_3589delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_027121.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_172068.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3450_3454delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_172068.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10924,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_172069.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3505_3509delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_172069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 10789,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_172070.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3370_3374delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_172070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 11118,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_001755716.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3699_3703delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001755716.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_001755717.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3699_3703delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001755717.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_001755718.3",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3699_3703delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001755718.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7706,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XR_007068196.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3585_3589delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007068196.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 7571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XR_007068197.1",
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"hgvs_c": "n.3450_3454delGAGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_007068197.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 29215,
"gene_symbol": "SHROOM4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 3.083,
"pos": 50607728,
"ref": "TTCCTC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_020717.5"
}
]
}