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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: 5-75356374-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75356374&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75356374,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000287936.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "NM_000859.3",
"protein_id": "NP_000850.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "ENST00000287936.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000287936.9",
"protein_id": "ENSP00000287936.4",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "NM_000859.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Ile585Val",
"transcript": "ENST00000343975.9",
"protein_id": "ENSP00000340816.5",
"transcript_support_level": 1,
"aa_start": 585,
"aa_end": null,
"aa_length": 835,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "NM_001364187.1",
"protein_id": "NP_001351116.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000511206.5",
"protein_id": "ENSP00000426745.1",
"transcript_support_level": 2,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000680940.1",
"protein_id": "ENSP00000505561.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000681271.1",
"protein_id": "ENSP00000505805.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 6777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000681410.1",
"protein_id": "ENSP00000506232.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "ENST00000680160.1",
"protein_id": "ENSP00000505315.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 873,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Ile585Val",
"transcript": "NM_001130996.2",
"protein_id": "NP_001124468.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 835,
"cds_start": 1753,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1972A>G",
"hgvs_p": "p.Ile658Val",
"transcript": "XM_011543357.2",
"protein_id": "XP_011541659.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 908,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val",
"transcript": "XM_011543358.2",
"protein_id": "XP_011541660.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 888,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "c.1813A>G",
"hgvs_p": "p.Ile605Val",
"transcript": "XM_011543359.2",
"protein_id": "XP_011541661.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 855,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 4394,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "n.375A>G",
"hgvs_p": null,
"transcript": "ENST00000508070.1",
"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": 450,
"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": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "n.2749A>G",
"hgvs_p": null,
"transcript": "ENST00000679456.1",
"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": 7163,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "n.*2461A>G",
"hgvs_p": null,
"transcript": "ENST00000681567.1",
"protein_id": "ENSP00000506708.1",
"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": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.*553T>C",
"hgvs_p": null,
"transcript": "ENST00000644912.1",
"protein_id": "ENSP00000495172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": -4,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.*623T>C",
"hgvs_p": null,
"transcript": "ENST00000646172.1",
"protein_id": "ENSP00000494969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 405,
"cds_start": -4,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1870,
"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": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"hgvs_c": "n.*2461A>G",
"hgvs_p": null,
"transcript": "ENST00000681567.1",
"protein_id": "ENSP00000506708.1",
"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": 7379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HMGCR",
"gene_hgnc_id": 5006,
"dbsnp": "rs5908",
"frequency_reference_population": 0.017936973,
"hom_count_reference_population": 340,
"allele_count_reference_population": 28704,
"gnomad_exomes_af": 0.0184392,
"gnomad_genomes_af": 0.013165,
"gnomad_exomes_ac": 26698,
"gnomad_genomes_ac": 2006,
"gnomad_exomes_homalt": 328,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00651821494102478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0627,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.514,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000287936.9",
"gene_symbol": "HMGCR",
"hgnc_id": 5006,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1912A>G",
"hgvs_p": "p.Ile638Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000644912.1",
"gene_symbol": "CERT1",
"hgnc_id": 2205,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*553T>C",
"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
}