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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: 4-55364217-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55364217&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 55364217,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024592.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "NM_024592.5",
"protein_id": "NP_078868.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 318,
"cds_start": 508,
"cds_end": null,
"cds_length": 957,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "ENST00000264228.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "ENST00000264228.9",
"protein_id": "ENSP00000264228.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 318,
"cds_start": 508,
"cds_end": null,
"cds_length": 957,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": "NM_024592.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "ENST00000679707.1",
"protein_id": "ENSP00000505713.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 284,
"cds_start": 508,
"cds_end": null,
"cds_length": 855,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 2676,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3-AS1",
"gene_hgnc_id": 44138,
"hgvs_c": "n.1371A>G",
"hgvs_p": null,
"transcript": "ENST00000433175.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "NM_001410732.1",
"protein_id": "NP_001397661.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 273,
"cds_start": 508,
"cds_end": null,
"cds_length": 822,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "ENST00000679836.1",
"protein_id": "ENSP00000506601.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 273,
"cds_start": 508,
"cds_end": null,
"cds_length": 822,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His",
"transcript": "ENST00000680700.1",
"protein_id": "ENSP00000504926.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 236,
"cds_start": 508,
"cds_end": null,
"cds_length": 711,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.373T>C",
"hgvs_p": "p.Tyr125His",
"transcript": "XM_017008601.2",
"protein_id": "XP_016864090.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 273,
"cds_start": 373,
"cds_end": null,
"cds_length": 822,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 3882,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.517T>C",
"hgvs_p": null,
"transcript": "ENST00000514398.1",
"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": 715,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.*114T>C",
"hgvs_p": null,
"transcript": "ENST00000677177.2",
"protein_id": "ENSP00000504451.2",
"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": 822,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.380T>C",
"hgvs_p": null,
"transcript": "ENST00000677217.1",
"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": 1031,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.405T>C",
"hgvs_p": null,
"transcript": "ENST00000678717.1",
"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": 2644,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "n.*114T>C",
"hgvs_p": null,
"transcript": "ENST00000679351.1",
"protein_id": "ENSP00000505676.1",
"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": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "n.*114T>C",
"hgvs_p": null,
"transcript": "ENST00000677177.2",
"protein_id": "ENSP00000504451.2",
"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": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288695",
"gene_hgnc_id": null,
"hgvs_c": "n.*114T>C",
"hgvs_p": null,
"transcript": "ENST00000679351.1",
"protein_id": "ENSP00000505676.1",
"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": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.289+4729T>C",
"hgvs_p": null,
"transcript": "ENST00000505210.1",
"protein_id": "ENSP00000424714.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": -4,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"hgvs_c": "c.364+4729T>C",
"hgvs_p": null,
"transcript": "XM_005265767.4",
"protein_id": "XP_005265824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRD5A3",
"gene_hgnc_id": 25812,
"dbsnp": "rs778788864",
"frequency_reference_population": 0.000017967137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000171012,
"gnomad_genomes_af": 0.0000262864,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6746217012405396,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4168,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.064,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_024592.5",
"gene_symbol": "SRD5A3",
"hgnc_id": 25812,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000679707.1",
"gene_symbol": "ENSG00000288695",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Tyr170His"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000433175.6",
"gene_symbol": "SRD5A3-AS1",
"hgnc_id": 44138,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1371A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}