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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: 10-124681815-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=124681815&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 124681815,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014661.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "NM_014661.4",
"protein_id": "NP_055476.3",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": "ENST00000337318.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014661.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000337318.8",
"protein_id": "ENSP00000338532.3",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 5759,
"mane_select": "NM_014661.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337318.8"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000280780.6",
"protein_id": "ENSP00000280780.6",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 305,
"cds_start": 698,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280780.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258539",
"gene_hgnc_id": null,
"hgvs_c": "n.*895A>C",
"hgvs_p": null,
"transcript": "ENST00000494792.1",
"protein_id": "ENSP00000455755.1",
"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": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258539",
"gene_hgnc_id": null,
"hgvs_c": "n.*895A>C",
"hgvs_p": null,
"transcript": "ENST00000494792.1",
"protein_id": "ENSP00000455755.1",
"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": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494792.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000392754.7",
"protein_id": "ENSP00000376509.3",
"transcript_support_level": 2,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392754.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000870308.1",
"protein_id": "ENSP00000540367.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 4886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870308.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000870309.1",
"protein_id": "ENSP00000540368.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870309.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000870310.1",
"protein_id": "ENSP00000540369.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870310.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000952225.1",
"protein_id": "ENSP00000622284.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952225.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000952226.1",
"protein_id": "ENSP00000622285.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 5517,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952226.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro",
"transcript": "ENST00000952227.1",
"protein_id": "ENSP00000622286.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 422,
"cds_start": 698,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952227.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"hgvs_c": "c.78+24821A>C",
"hgvs_p": null,
"transcript": "ENST00000952224.1",
"protein_id": "ENSP00000622283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952224.1"
}
],
"gene_symbol": "FAM53B",
"gene_hgnc_id": 28968,
"dbsnp": null,
"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": 0.8241332769393921,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.1714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.784,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014661.4",
"gene_symbol": "FAM53B",
"hgnc_id": 28968,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.698A>C",
"hgvs_p": "p.His233Pro"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000494792.1",
"gene_symbol": "ENSG00000258539",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*895A>C",
"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
}