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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: 1-211019164-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211019164&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 211019164,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000271751.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "NM_172362.3",
"protein_id": "NP_758872.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 989,
"cds_start": 651,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 8140,
"mane_select": "ENST00000271751.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "ENST00000271751.10",
"protein_id": "ENSP00000271751.4",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 989,
"cds_start": 651,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 8140,
"mane_select": "NM_172362.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "ENST00000639952.1",
"protein_id": "ENSP00000492697.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 962,
"cds_start": 651,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 8075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.310+84332G>C",
"hgvs_p": null,
"transcript": "ENST00000640044.1",
"protein_id": "ENSP00000491434.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.310+84332G>C",
"hgvs_p": null,
"transcript": "ENST00000640566.1",
"protein_id": "ENSP00000491302.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "NM_002238.4",
"protein_id": "NP_002229.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 962,
"cds_start": 651,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "ENST00000638498.1",
"protein_id": "ENSP00000490983.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 940,
"cds_start": 651,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "ENST00000367007.5",
"protein_id": "ENSP00000355974.5",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 913,
"cds_start": 651,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.522G>C",
"hgvs_p": "p.Lys174Asn",
"transcript": "ENST00000639602.1",
"protein_id": "ENSP00000492303.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 482,
"cds_start": 522,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.63G>C",
"hgvs_p": "p.Lys21Asn",
"transcript": "ENST00000638357.1",
"protein_id": "ENSP00000492865.1",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 426,
"cds_start": 63,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "ENST00000638983.1",
"protein_id": "ENSP00000492641.1",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 333,
"cds_start": 651,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn",
"transcript": "XM_047419823.1",
"protein_id": "XP_047275779.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 954,
"cds_start": 651,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3761,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.651G>C",
"hgvs_p": null,
"transcript": "ENST00000638960.1",
"protein_id": "ENSP00000492302.1",
"transcript_support_level": 5,
"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": 4592,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.27G>C",
"hgvs_p": null,
"transcript": "ENST00000639385.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 711,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.854G>C",
"hgvs_p": null,
"transcript": "ENST00000639754.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2401,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.651G>C",
"hgvs_p": null,
"transcript": "ENST00000640243.1",
"protein_id": "ENSP00000492803.1",
"transcript_support_level": 5,
"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": 3027,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.651G>C",
"hgvs_p": null,
"transcript": "ENST00000640522.1",
"protein_id": "ENSP00000491019.1",
"transcript_support_level": 5,
"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": 1817,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.651G>C",
"hgvs_p": null,
"transcript": "ENST00000640528.1",
"protein_id": "ENSP00000491725.1",
"transcript_support_level": 5,
"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": 4173,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.651G>C",
"hgvs_p": null,
"transcript": "ENST00000640710.1",
"protein_id": "ENSP00000492513.1",
"transcript_support_level": 5,
"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": 3831,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "n.753G>C",
"hgvs_p": null,
"transcript": "ENST00000640890.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"hgvs_c": "c.-351G>C",
"hgvs_p": null,
"transcript": "XM_047419829.1",
"protein_id": "XP_047275785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNH1",
"gene_hgnc_id": 6250,
"dbsnp": "rs727502822",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8995463252067566,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.963,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.159,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000271751.10",
"gene_symbol": "KCNH1",
"hgnc_id": 6250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.651G>C",
"hgvs_p": "p.Lys217Asn"
}
],
"clinvar_disease": "Temple-Baraitser syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Temple-Baraitser syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}