← Back to variant description
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-50813989-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=50813989&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 50813989,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000376020.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "NM_020717.5",
"protein_id": "NP_065768.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1493,
"cds_start": 30,
"cds_end": null,
"cds_length": 4482,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 14557,
"mane_select": "ENST00000376020.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "ENST00000376020.9",
"protein_id": "ENSP00000365188.2",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 1493,
"cds_start": 30,
"cds_end": null,
"cds_length": 4482,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 14557,
"mane_select": "NM_020717.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "ENST00000289292.11",
"protein_id": "ENSP00000289292.7",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 1493,
"cds_start": 30,
"cds_end": null,
"cds_length": 4482,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 6261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_017029682.3",
"protein_id": "XP_016885171.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1531,
"cds_start": 30,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 14671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_017029683.2",
"protein_id": "XP_016885172.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1486,
"cds_start": 30,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 14536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_047442279.1",
"protein_id": "XP_047298235.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1448,
"cds_start": 30,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 14422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_017029685.3",
"protein_id": "XP_016885174.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 1398,
"cds_start": 30,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 4474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_017029687.3",
"protein_id": "XP_016885176.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 999,
"cds_start": 30,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr",
"transcript": "XM_047442280.1",
"protein_id": "XP_047298236.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 954,
"cds_start": 30,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"hgvs_c": "n.206C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SHROOM4",
"gene_hgnc_id": 29215,
"dbsnp": "rs1428157543",
"frequency_reference_population": 9.12562e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.12562e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.952,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000376020.9",
"gene_symbol": "SHROOM4",
"hgnc_id": 29215,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.30C>T",
"hgvs_p": "p.Tyr10Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}