← Back to variant description
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: 5-148107109-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148107109&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 148107109,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000256084.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "NM_006846.4",
"protein_id": "NP_006837.2",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "ENST00000256084.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "ENST00000256084.8",
"protein_id": "ENSP00000256084.7",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": "NM_006846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "ENST00000359874.7",
"protein_id": "ENSP00000352936.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "ENST00000398454.5",
"protein_id": "ENSP00000381472.1",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 916,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2915,
"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": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "n.1716C>T",
"hgvs_p": null,
"transcript": "ENST00000507988.5",
"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": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "NM_001127698.2",
"protein_id": "NP_001121170.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1094,
"cds_start": 1552,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "NM_001127699.2",
"protein_id": "NP_001121171.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 916,
"cds_start": 1552,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "ENST00000508733.5",
"protein_id": "ENSP00000421519.1",
"transcript_support_level": 5,
"aa_start": 499,
"aa_end": null,
"aa_length": 868,
"cds_start": 1495,
"cds_end": null,
"cds_length": 2609,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1495C>T",
"hgvs_p": "p.Arg499Cys",
"transcript": "XM_047416662.1",
"protein_id": "XP_047272618.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 1075,
"cds_start": 1495,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 3684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Arg490Cys",
"transcript": "XM_011537551.3",
"protein_id": "XP_011535853.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "c.796C>T",
"hgvs_p": "p.Arg266Cys",
"transcript": "XM_047416663.1",
"protein_id": "XP_047272619.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 842,
"cds_start": 796,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 3219,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"hgvs_c": "n.1161C>T",
"hgvs_p": null,
"transcript": "ENST00000481286.6",
"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": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXO38-DT",
"gene_hgnc_id": 55589,
"hgvs_c": "n.1257-13367G>A",
"hgvs_p": null,
"transcript": "ENST00000667608.1",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPINK5",
"gene_hgnc_id": 15464,
"dbsnp": "rs115504632",
"frequency_reference_population": 0.0018228788,
"hom_count_reference_population": 37,
"allele_count_reference_population": 2941,
"gnomad_exomes_af": 0.00100398,
"gnomad_genomes_af": 0.00968501,
"gnomad_exomes_ac": 1467,
"gnomad_genomes_ac": 1474,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013533473014831543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.207,
"revel_prediction": "Benign",
"alphamissense_score": 0.1253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.408,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000256084.8",
"gene_symbol": "SPINK5",
"hgnc_id": 15464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000667608.1",
"gene_symbol": "FBXO38-DT",
"hgnc_id": 55589,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1257-13367G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Ichthyosis linearis circumflexa,Netherton syndrome,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|Netherton syndrome|Ichthyosis linearis circumflexa",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}