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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: 1-155169544-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155169544&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155169544,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000295682.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"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": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Val103Phe",
"transcript": "NM_173852.4",
"protein_id": "NP_776251.2",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 136,
"cds_start": 307,
"cds_end": null,
"cds_length": 411,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 523,
"mane_select": "ENST00000295682.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"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": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Val103Phe",
"transcript": "ENST00000295682.6",
"protein_id": "ENSP00000295682.5",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 136,
"cds_start": 307,
"cds_end": null,
"cds_length": 411,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 523,
"mane_select": "NM_173852.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"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": "ENSG00000273088",
"gene_hgnc_id": null,
"hgvs_c": "c.618G>T",
"hgvs_p": "p.Trp206Cys",
"transcript": "ENST00000473363.3",
"protein_id": "ENSP00000477381.3",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 250,
"cds_start": 618,
"cds_end": null,
"cds_length": 753,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "n.649G>T",
"hgvs_p": null,
"transcript": "ENST00000487350.5",
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "c.311G>T",
"hgvs_p": "p.Gly104Val",
"transcript": "ENST00000497317.5",
"protein_id": "ENSP00000501502.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 143,
"cds_start": 311,
"cds_end": null,
"cds_length": 432,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"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": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "c.241G>T",
"hgvs_p": "p.Val81Phe",
"transcript": "ENST00000491084.5",
"protein_id": "ENSP00000501495.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 114,
"cds_start": 241,
"cds_end": null,
"cds_length": 345,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "c.235G>T",
"hgvs_p": "p.Val79Phe",
"transcript": "ENST00000482246.5",
"protein_id": "ENSP00000501375.1",
"transcript_support_level": 3,
"aa_start": 79,
"aa_end": null,
"aa_length": 112,
"cds_start": 235,
"cds_end": null,
"cds_length": 339,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "n.197G>T",
"hgvs_p": null,
"transcript": "ENST00000461136.5",
"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": 271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "n.327G>T",
"hgvs_p": null,
"transcript": "ENST00000463527.5",
"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": 463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "n.443G>T",
"hgvs_p": null,
"transcript": "ENST00000471891.5",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"hgvs_c": "n.3128G>T",
"hgvs_p": null,
"transcript": "ENST00000490672.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRTCAP2",
"gene_hgnc_id": 28942,
"dbsnp": "rs200517433",
"frequency_reference_population": 0.0001239145,
"hom_count_reference_population": 0,
"allele_count_reference_population": 200,
"gnomad_exomes_af": 0.00012314,
"gnomad_genomes_af": 0.000131347,
"gnomad_exomes_ac": 180,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10301408171653748,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.909,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000295682.6",
"gene_symbol": "KRTCAP2",
"hgnc_id": 28942,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.307G>T",
"hgvs_p": "p.Val103Phe"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000473363.3",
"gene_symbol": "ENSG00000273088",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.618G>T",
"hgvs_p": "p.Trp206Cys"
}
],
"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
}