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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-TTCCTCC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=50607728&ref=TTCCTCC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 50607728,
"ref": "TTCCTCC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_020717.5",
"consequences": [
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3408_3413delGGAGGA",
"hgvs_p": "p.Glu1137_Glu1138del",
"transcript": "NM_020717.5",
"protein_id": "NP_065768.2",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3408,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376020.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020717.5"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3408_3413delGGAGGA",
"hgvs_p": "p.Glu1137_Glu1138del",
"transcript": "ENST00000376020.9",
"protein_id": "ENSP00000365188.2",
"transcript_support_level": 2,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3408,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020717.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376020.9"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3408_3413delGGAGGA",
"hgvs_p": "p.Glu1137_Glu1138del",
"transcript": "ENST00000289292.11",
"protein_id": "ENSP00000289292.7",
"transcript_support_level": 1,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3408,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289292.11"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3273_3278delGGAGGA",
"hgvs_p": "p.Glu1092_Glu1093del",
"transcript": "ENST00000898514.1",
"protein_id": "ENSP00000568573.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3273,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898514.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3060_3065delGGAGGA",
"hgvs_p": "p.Glu1021_Glu1022del",
"transcript": "ENST00000460112.3",
"protein_id": "ENSP00000421450.1",
"transcript_support_level": 5,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3060,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460112.3"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3522_3527delGGAGGA",
"hgvs_p": "p.Glu1175_Glu1176del",
"transcript": "XM_017029682.3",
"protein_id": "XP_016885171.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3522,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029682.3"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3387_3392delGGAGGA",
"hgvs_p": "p.Glu1130_Glu1131del",
"transcript": "XM_017029683.2",
"protein_id": "XP_016885172.1",
"transcript_support_level": null,
"aa_start": 1129,
"aa_end": null,
"aa_length": 1486,
"cds_start": 3387,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029683.2"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3273_3278delGGAGGA",
"hgvs_p": "p.Glu1092_Glu1093del",
"transcript": "XM_047442279.1",
"protein_id": "XP_047298235.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3273,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442279.1"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3174_3179delGGAGGA",
"hgvs_p": "p.Glu1059_Glu1060del",
"transcript": "XM_017029684.2",
"protein_id": "XP_016885173.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3174,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029684.2"
},
{
"aa_ref": "EEE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.3522_3527delGGAGGA",
"hgvs_p": "p.Glu1175_Glu1176del",
"transcript": "XM_017029685.3",
"protein_id": "XP_016885174.1",
"transcript_support_level": null,
"aa_start": 1174,
"aa_end": null,
"aa_length": 1398,
"cds_start": 3522,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029685.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3584_3589delGGAGGA",
"hgvs_p": null,
"transcript": "NR_027121.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_027121.3"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3449_3454delGGAGGA",
"hgvs_p": null,
"transcript": "NR_172068.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_172068.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3504_3509delGGAGGA",
"hgvs_p": null,
"transcript": "NR_172069.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_172069.1"
},
{
"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": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3369_3374delGGAGGA",
"hgvs_p": null,
"transcript": "NR_172070.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_172070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3698_3703delGGAGGA",
"hgvs_p": null,
"transcript": "XR_001755716.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001755716.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3698_3703delGGAGGA",
"hgvs_p": null,
"transcript": "XR_001755717.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001755717.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3698_3703delGGAGGA",
"hgvs_p": null,
"transcript": "XR_001755718.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_001755718.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3584_3589delGGAGGA",
"hgvs_p": null,
"transcript": "XR_007068196.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007068196.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.3449_3454delGGAGGA",
"hgvs_p": null,
"transcript": "XR_007068197.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007068197.1"
}
],
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"dbsnp": "rs143151534",
"frequency_reference_population": 0.00015582141,
"hom_count_reference_population": 50,
"allele_count_reference_population": 174,
"gnomad_exomes_af": 0.000157273,
"gnomad_genomes_af": 0.000141935,
"gnomad_exomes_ac": 159,
"gnomad_genomes_ac": 15,
"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": 3.083,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_020717.5",
"gene_symbol": "SHROOM4",
"hgnc_id": 29215,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3408_3413delGGAGGA",
"hgvs_p": "p.Glu1137_Glu1138del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}