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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: 15-84943499-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84943499&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84943499,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000394573.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "NM_004213.5",
"protein_id": "NP_004204.3",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 649,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "ENST00000394573.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "ENST00000394573.6",
"protein_id": "ENSP00000378074.1",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 649,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "NM_004213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "ENST00000286749.3",
"protein_id": "ENSP00000286749.3",
"transcript_support_level": 1,
"aa_start": 546,
"aa_end": null,
"aa_length": 649,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "NM_001287762.2",
"protein_id": "NP_001274691.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 649,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "NM_001321722.2",
"protein_id": "NP_001308651.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 636,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "NM_001287761.2",
"protein_id": "NP_001274690.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 483,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "ENST00000538177.5",
"protein_id": "ENSP00000443752.1",
"transcript_support_level": 2,
"aa_start": 380,
"aa_end": null,
"aa_length": 483,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_011522203.3",
"protein_id": "XP_011520505.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_011522204.4",
"protein_id": "XP_011520506.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2059,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_011522205.4",
"protein_id": "XP_011520507.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_011522206.4",
"protein_id": "XP_011520508.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_047433320.1",
"protein_id": "XP_047289276.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 692,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1687,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1609T>C",
"hgvs_p": "p.Ser537Pro",
"transcript": "XM_011522208.4",
"protein_id": "XP_011520510.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 683,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1653,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1558T>C",
"hgvs_p": "p.Ser520Pro",
"transcript": "XM_011522209.3",
"protein_id": "XP_011520511.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 666,
"cds_start": 1558,
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"cds_length": 2001,
"cdna_start": 1780,
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"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_011522210.3",
"protein_id": "XP_011520512.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 648,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro",
"transcript": "XM_017022723.2",
"protein_id": "XP_016878212.1",
"transcript_support_level": null,
"aa_start": 546,
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"cds_start": 1636,
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"cdna_start": 1858,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1402T>C",
"hgvs_p": "p.Ser468Pro",
"transcript": "XM_011522216.2",
"protein_id": "XP_011520518.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 614,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "XM_011522215.3",
"protein_id": "XP_011520517.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 526,
"cds_start": 1138,
"cds_end": null,
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"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1968,
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"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1138T>C",
"hgvs_p": "p.Ser380Pro",
"transcript": "XM_011522217.2",
"protein_id": "XP_011520519.1",
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"aa_start": 380,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1581+7981T>C",
"hgvs_p": null,
"transcript": "NM_001321721.2",
"protein_id": "NP_001308650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2041,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.1582-7581T>C",
"hgvs_p": null,
"transcript": "XM_011522212.2",
"protein_id": "XP_011520514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"dbsnp": "rs45584739",
"frequency_reference_population": 0.00061710493,
"hom_count_reference_population": 12,
"allele_count_reference_population": 996,
"gnomad_exomes_af": 0.000321544,
"gnomad_genomes_af": 0.00345389,
"gnomad_exomes_ac": 470,
"gnomad_genomes_ac": 526,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01810091733932495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9602,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.123,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394573.6",
"gene_symbol": "SLC28A1",
"hgnc_id": 11001,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1636T>C",
"hgvs_p": "p.Ser546Pro"
}
],
"clinvar_disease": "SLC28A1-related disorder,Uridine-cytidineuria,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Uridine-cytidineuria|not provided|SLC28A1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}