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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: 16-11838052-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11838052&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RSL1D1",
"hgnc_id": 24534,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_015659.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 38,
"alphamissense_prediction": null,
"alphamissense_score": 0.0805,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05374261736869812,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5440,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015659.3",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000571133.6",
"protein_coding": true,
"protein_id": "NP_056474.2",
"strand": false,
"transcript": "NM_015659.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 490,
"aa_ref": "R",
"aa_start": 403,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5440,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1208,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000571133.6",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015659.3",
"protein_coding": true,
"protein_id": "ENSP00000460871.1",
"strand": false,
"transcript": "ENST00000571133.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 429,
"aa_ref": "R",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1291,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000355674.9",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347897.5",
"strand": false,
"transcript": "ENST00000355674.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 499,
"aa_ref": "R",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000898748.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1235G>A",
"hgvs_p": "p.Arg412His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568807.1",
"strand": false,
"transcript": "ENST00000898748.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000927449.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597508.1",
"strand": false,
"transcript": "ENST00000927449.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 487,
"aa_ref": "R",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000945286.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615345.1",
"strand": false,
"transcript": "ENST00000945286.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 397,
"aa_ref": "R",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1194,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898749.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568808.1",
"strand": false,
"transcript": "ENST00000898749.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 240,
"aa_ref": "R",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": 526,
"cds_end": null,
"cds_length": 723,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927450.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "c.458G>A",
"hgvs_p": "p.Arg153His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597509.1",
"strand": false,
"transcript": "ENST00000927450.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396503.7",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*948G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000379760.3",
"strand": false,
"transcript": "ENST00000396503.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000573029.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*537G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461513.1",
"strand": false,
"transcript": "ENST00000573029.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000573618.5",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*463G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000459207.1",
"strand": false,
"transcript": "ENST00000573618.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396503.7",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*948G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000379760.3",
"strand": false,
"transcript": "ENST00000396503.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 766,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000573029.1",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*537G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461513.1",
"strand": false,
"transcript": "ENST00000573029.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000573618.5",
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"hgvs_c": "n.*463G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000459207.1",
"strand": false,
"transcript": "ENST00000573618.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs375088154",
"effect": "missense_variant",
"frequency_reference_population": 0.000023553417,
"gene_hgnc_id": 24534,
"gene_symbol": "RSL1D1",
"gnomad_exomes_ac": 31,
"gnomad_exomes_af": 0.0000212114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000460896,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.026,
"pos": 11838052,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.069,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015659.3"
}
]
}