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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: 1-154024870-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154024870&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154024870,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000368559.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "ENST00000368559.8",
"protein_id": "ENSP00000357547.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1888,
"cds_start": -4,
"cds_end": null,
"cds_length": 5667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5841,
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.921+672C>T",
"hgvs_p": null,
"transcript": "ENST00000368553.5",
"protein_id": "ENSP00000357541.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": -4,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"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": 40,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "NM_207308.3",
"protein_id": "NP_997191.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1888,
"cds_start": -4,
"cds_end": null,
"cds_length": 5667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5841,
"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": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "NM_001159484.1",
"protein_id": "NP_001152956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1736,
"cds_start": -4,
"cds_end": null,
"cds_length": 5211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5428,
"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": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "ENST00000271854.3",
"protein_id": "ENSP00000271854.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1736,
"cds_start": -4,
"cds_end": null,
"cds_length": 5211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5424,
"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": 39,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "XM_017002788.3",
"protein_id": "XP_016858277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1853,
"cds_start": -4,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5779,
"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": 39,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.3990+672C>T",
"hgvs_p": null,
"transcript": "XM_011510122.2",
"protein_id": "XP_011508424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1844,
"cds_start": -4,
"cds_end": null,
"cds_length": 5535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5752,
"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": 39,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.3963+672C>T",
"hgvs_p": null,
"transcript": "XM_011510123.2",
"protein_id": "XP_011508425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1835,
"cds_start": -4,
"cds_end": null,
"cds_length": 5508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5725,
"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": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "XM_011510124.2",
"protein_id": "XP_011508426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1747,
"cds_start": -4,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5433,
"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": 40,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.3675+672C>T",
"hgvs_p": null,
"transcript": "XM_047433904.1",
"protein_id": "XP_047289860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1739,
"cds_start": -4,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5900,
"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": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null,
"transcript": "XM_017002789.3",
"protein_id": "XP_016858278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1656,
"cds_start": -4,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUP210L",
"gene_hgnc_id": 29915,
"dbsnp": "rs11264886",
"frequency_reference_population": 0.27811864,
"hom_count_reference_population": 5901,
"allele_count_reference_population": 40795,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.278119,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 40795,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 5901,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.091,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000368559.8",
"gene_symbol": "NUP210L",
"hgnc_id": 29915,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4122+672C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}