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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: 14-89931628-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=89931628&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 89931628,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145231.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "NM_145231.4",
"protein_id": "NP_660274.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 163,
"cds_start": 323,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316738.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145231.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "ENST00000316738.12",
"protein_id": "ENSP00000326267.7",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 163,
"cds_start": 323,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145231.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316738.12"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000555872.5",
"protein_id": "ENSP00000452320.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 139,
"cds_start": 251,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555872.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "ENST00000556005.1",
"protein_id": "ENSP00000452143.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 118,
"cds_start": 251,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556005.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "ENST00000905285.1",
"protein_id": "ENSP00000575344.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 205,
"cds_start": 323,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905285.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "ENST00000905286.1",
"protein_id": "ENSP00000575345.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 191,
"cds_start": 323,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905286.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "NM_001284266.2",
"protein_id": "NP_001271195.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 142,
"cds_start": 323,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284266.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His",
"transcript": "ENST00000538485.6",
"protein_id": "ENSP00000438072.2",
"transcript_support_level": 2,
"aa_start": 108,
"aa_end": null,
"aa_length": 142,
"cds_start": 323,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538485.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "NM_001284269.2",
"protein_id": "NP_001271198.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 139,
"cds_start": 251,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284269.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "NM_001284268.2",
"protein_id": "NP_001271197.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 118,
"cds_start": 251,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284268.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60His",
"transcript": "NM_001284267.2",
"protein_id": "NP_001271196.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 115,
"cds_start": 179,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284267.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60His",
"transcript": "ENST00000556609.5",
"protein_id": "ENSP00000452335.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 115,
"cds_start": 179,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.73G>A",
"hgvs_p": null,
"transcript": "ENST00000550103.2",
"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": "ENST00000550103.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.369G>A",
"hgvs_p": null,
"transcript": "ENST00000553871.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000553871.5"
},
{
"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": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.352G>A",
"hgvs_p": null,
"transcript": "ENST00000554761.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000554761.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.404G>A",
"hgvs_p": null,
"transcript": "ENST00000555608.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000555608.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000556639.5",
"protein_id": "ENSP00000452397.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000556639.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.248G>A",
"hgvs_p": null,
"transcript": "ENST00000557685.5",
"protein_id": "ENSP00000452403.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000557685.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"hgvs_c": "n.*133G>A",
"hgvs_p": null,
"transcript": "ENST00000556639.5",
"protein_id": "ENSP00000452397.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000556639.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259053",
"gene_hgnc_id": null,
"hgvs_c": "n.170+22278G>A",
"hgvs_p": null,
"transcript": "ENST00000555070.1",
"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": "ENST00000555070.1"
}
],
"gene_symbol": "EFCAB11",
"gene_hgnc_id": 20357,
"dbsnp": "rs200626268",
"frequency_reference_population": 0.000081204955,
"hom_count_reference_population": 1,
"allele_count_reference_population": 131,
"gnomad_exomes_af": 0.0000807631,
"gnomad_genomes_af": 0.0000854487,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11087429523468018,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.2823,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"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": -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": "NM_145231.4",
"gene_symbol": "EFCAB11",
"hgnc_id": 20357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108His"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000555070.1",
"gene_symbol": "ENSG00000259053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.170+22278G>A",
"hgvs_p": null
}
],
"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
}