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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: 6-110472889-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110472889&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110472889,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_033125.4",
"consequences": [
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "NM_033125.4",
"protein_id": "NP_149116.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368919.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033125.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "ENST00000368919.8",
"protein_id": "ENSP00000357915.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": null,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033125.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368919.8"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.47+2043G>A",
"hgvs_p": null,
"transcript": "ENST00000330550.8",
"protein_id": "ENSP00000328583.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330550.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "n.120+3633G>A",
"hgvs_p": null,
"transcript": "ENST00000461487.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000461487.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "ENST00000941077.1",
"protein_id": "ENSP00000611136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941077.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "ENST00000941078.1",
"protein_id": "ENSP00000611137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941078.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.-77+3427G>A",
"hgvs_p": null,
"transcript": "ENST00000437378.5",
"protein_id": "ENSP00000416310.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 350,
"cds_start": null,
"cds_end": null,
"cds_length": 1054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437378.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.-96+3427G>A",
"hgvs_p": null,
"transcript": "ENST00000434949.5",
"protein_id": "ENSP00000409306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434949.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.-77+3369G>A",
"hgvs_p": null,
"transcript": "ENST00000424139.1",
"protein_id": "ENSP00000401007.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424139.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.-77+3427G>A",
"hgvs_p": null,
"transcript": "XM_011536204.4",
"protein_id": "XP_011534506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536204.4"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "XM_011536205.3",
"protein_id": "XP_011534507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 515,
"cds_start": null,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536205.3"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "XM_011536206.3",
"protein_id": "XP_011534508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536206.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.61+3369G>A",
"hgvs_p": null,
"transcript": "XM_011536207.4",
"protein_id": "XP_011534509.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 459,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536207.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.25+3633G>A",
"hgvs_p": null,
"transcript": "XM_011536208.4",
"protein_id": "XP_011534510.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536208.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.10+352G>A",
"hgvs_p": null,
"transcript": "XM_011536209.4",
"protein_id": "XP_011534511.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 442,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536209.4"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "XM_011536210.1",
"protein_id": "XP_011534512.1",
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"biotype": "protein_coding",
"feature": "XM_011536210.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "XM_011536211.3",
"protein_id": "XP_011534513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536211.3"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"hgvs_c": "c.53+3633G>A",
"hgvs_p": null,
"transcript": "XM_047419435.1",
"protein_id": "XP_047275391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": null,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419435.1"
}
],
"gene_symbol": "SLC22A16",
"gene_hgnc_id": 20302,
"dbsnp": "rs17071722",
"frequency_reference_population": 0.11829031,
"hom_count_reference_population": 1365,
"allele_count_reference_population": 18000,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.11829,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 18000,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1365,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.987,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_033125.4",
"gene_symbol": "SLC22A16",
"hgnc_id": 20302,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.53+3633G>A",
"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
}