← Back to variant description
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: 15-34343040-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34343040&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34343040,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000328848.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "NM_018648.4",
"protein_id": "NP_061118.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 64,
"cds_start": 34,
"cds_end": null,
"cds_length": 195,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 507,
"mane_select": "ENST00000328848.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000328848.6",
"protein_id": "ENSP00000332198.5",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 64,
"cds_start": 34,
"cds_end": null,
"cds_length": 195,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 507,
"mane_select": "NM_018648.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000699926.1",
"protein_id": "ENSP00000514692.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 65,
"cds_start": 34,
"cds_end": null,
"cds_length": 198,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000699937.1",
"protein_id": "ENSP00000514700.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 59,
"cds_start": 34,
"cds_end": null,
"cds_length": 180,
"cdna_start": 99,
"cdna_end": null,
"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000699934.1",
"protein_id": "ENSP00000514697.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 58,
"cds_start": 34,
"cds_end": null,
"cds_length": 177,
"cdna_start": 85,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000699938.1",
"protein_id": "ENSP00000514701.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 55,
"cds_start": 34,
"cds_end": null,
"cds_length": 168,
"cdna_start": 114,
"cdna_end": null,
"cdna_length": 441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His",
"transcript": "ENST00000557912.2",
"protein_id": "ENSP00000453475.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 36,
"cds_start": 34,
"cds_end": null,
"cds_length": 111,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 491,
"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": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "n.120G>C",
"hgvs_p": null,
"transcript": "ENST00000699939.1",
"protein_id": null,
"transcript_support_level": null,
"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": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.-286G>C",
"hgvs_p": null,
"transcript": "ENST00000699935.1",
"protein_id": "ENSP00000514698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"hgvs_c": "c.-152G>C",
"hgvs_p": null,
"transcript": "ENST00000699936.1",
"protein_id": "ENSP00000514699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOP10",
"gene_hgnc_id": 14378,
"dbsnp": "rs146261631",
"frequency_reference_population": 0.010678346,
"hom_count_reference_population": 121,
"allele_count_reference_population": 17235,
"gnomad_exomes_af": 0.0109296,
"gnomad_genomes_af": 0.00826669,
"gnomad_exomes_ac": 15976,
"gnomad_genomes_ac": 1259,
"gnomad_exomes_homalt": 109,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010433614253997803,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.4059,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.799,
"phylop100way_prediction": "Uncertain_significance",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 9,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000328848.6",
"gene_symbol": "NOP10",
"hgnc_id": 14378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Asp12His"
}
],
"clinvar_disease": " 9, autosomal recessive 1, telomere-related,Dyskeratosis congenita,Pulmonary fibrosis and/or bone marrow failure syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 LB:5 B:3",
"phenotype_combined": "not provided|not specified|Dyskeratosis congenita, autosomal recessive 1|Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}