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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: 2-230045915-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230045915&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230045915,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152527.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "NM_152527.5",
"protein_id": "NP_689740.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": "ENST00000295190.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152527.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "ENST00000295190.9",
"protein_id": "ENSP00000295190.4",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": "NM_152527.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295190.9"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "ENST00000457406.5",
"protein_id": "ENSP00000400352.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 488,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1469,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457406.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "ENST00000880807.1",
"protein_id": "ENSP00000550866.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 5396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880807.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "ENST00000412034.5",
"protein_id": "ENSP00000395775.1",
"transcript_support_level": 2,
"aa_start": 404,
"aa_end": null,
"aa_length": 484,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1456,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412034.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Thr356Arg",
"transcript": "ENST00000880804.1",
"protein_id": "ENSP00000550863.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 462,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880804.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "XM_011510751.4",
"protein_id": "XP_011509053.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510751.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "XM_017003480.3",
"protein_id": "XP_016858969.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 510,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 4900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003480.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg",
"transcript": "XM_011510752.3",
"protein_id": "XP_011509054.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 481,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510752.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Thr356Arg",
"transcript": "XM_005246353.5",
"protein_id": "XP_005246410.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 462,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246353.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.1067C>G",
"hgvs_p": "p.Thr356Arg",
"transcript": "XM_047443523.1",
"protein_id": "XP_047299479.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 462,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 4904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.586+625C>G",
"hgvs_p": null,
"transcript": "ENST00000880808.1",
"protein_id": "ENSP00000550867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": null,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880808.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.511+700C>G",
"hgvs_p": null,
"transcript": "ENST00000880805.1",
"protein_id": "ENSP00000550864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.403+3846C>G",
"hgvs_p": null,
"transcript": "ENST00000920474.1",
"protein_id": "ENSP00000590533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"hgvs_c": "c.260-8384C>G",
"hgvs_p": null,
"transcript": "ENST00000880806.1",
"protein_id": "ENSP00000550865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107985996",
"gene_hgnc_id": null,
"hgvs_c": "n.123-4934G>C",
"hgvs_p": null,
"transcript": "XR_001739919.3",
"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": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001739919.3"
}
],
"gene_symbol": "SLC16A14",
"gene_hgnc_id": 26417,
"dbsnp": "rs199728364",
"frequency_reference_population": 6.8486395e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84864e-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": 0.910932183265686,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.23999999463558197,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.663,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1604,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.504,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.24,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152527.5",
"gene_symbol": "SLC16A14",
"hgnc_id": 26417,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1211C>G",
"hgvs_p": "p.Thr404Arg"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001739919.3",
"gene_symbol": "LOC107985996",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.123-4934G>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
}