← 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: 12-52235239-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=52235239&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 52235239,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005556.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "NM_005556.4",
"protein_id": "NP_005547.3",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 469,
"cds_start": 409,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331817.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005556.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000331817.6",
"protein_id": "ENSP00000329243.5",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 469,
"cds_start": 409,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005556.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331817.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000955643.1",
"protein_id": "ENSP00000625702.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 493,
"cds_start": 409,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955643.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000955640.1",
"protein_id": "ENSP00000625699.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 492,
"cds_start": 409,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955640.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000888037.1",
"protein_id": "ENSP00000558096.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 475,
"cds_start": 409,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888037.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000955639.1",
"protein_id": "ENSP00000625698.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 446,
"cds_start": 409,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955639.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000888041.1",
"protein_id": "ENSP00000558100.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 444,
"cds_start": 409,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888041.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000888039.1",
"protein_id": "ENSP00000558098.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 435,
"cds_start": 409,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888039.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000888038.1",
"protein_id": "ENSP00000558097.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 427,
"cds_start": 409,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888038.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000888040.1",
"protein_id": "ENSP00000558099.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 420,
"cds_start": 409,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888040.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "ENST00000955644.1",
"protein_id": "ENSP00000625703.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 414,
"cds_start": 409,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955644.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "XM_011538325.3",
"protein_id": "XP_011536627.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 445,
"cds_start": 409,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538325.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val",
"transcript": "XM_047428827.1",
"protein_id": "XP_047284783.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 365,
"cds_start": 409,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.324+1619C>G",
"hgvs_p": null,
"transcript": "ENST00000955642.1",
"protein_id": "ENSP00000625701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "c.325-87C>G",
"hgvs_p": null,
"transcript": "ENST00000955641.1",
"protein_id": "ENSP00000625700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": null,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955641.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"hgvs_c": "n.114C>G",
"hgvs_p": null,
"transcript": "ENST00000547613.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000547613.1"
}
],
"gene_symbol": "KRT7",
"gene_hgnc_id": 6445,
"dbsnp": "rs754269896",
"frequency_reference_population": 0.000021682621,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000164179,
"gnomad_genomes_af": 0.0000721908,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0400429368019104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.0892,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.637,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005556.4",
"gene_symbol": "KRT7",
"hgnc_id": 6445,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.409C>G",
"hgvs_p": "p.Leu137Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}