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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: 4-2174727-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2174727&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2174727,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000511885.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "NM_181808.4",
"protein_id": "NP_861524.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 900,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": "ENST00000511885.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "ENST00000511885.6",
"protein_id": "ENSP00000435506.1",
"transcript_support_level": 5,
"aa_start": 425,
"aa_end": null,
"aa_length": 900,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": "NM_181808.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "ENST00000382865.5",
"protein_id": "ENSP00000372316.1",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 900,
"cds_start": 1273,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Arg58Cys",
"transcript": "ENST00000511098.1",
"protein_id": "ENSP00000426401.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 523,
"cds_start": 172,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290263",
"gene_hgnc_id": null,
"hgvs_c": "n.2636C>T",
"hgvs_p": null,
"transcript": "ENST00000672725.1",
"protein_id": "ENSP00000500518.1",
"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": 4600,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "n.457C>T",
"hgvs_p": null,
"transcript": "ENST00000514858.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3978,
"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": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"hgvs_c": "n.1618C>T",
"hgvs_p": null,
"transcript": "ENST00000515357.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2183,
"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": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290263",
"gene_hgnc_id": null,
"hgvs_c": "n.*1308C>T",
"hgvs_p": null,
"transcript": "ENST00000672739.1",
"protein_id": "ENSP00000500512.1",
"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": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290263",
"gene_hgnc_id": null,
"hgvs_c": "n.*1308C>T",
"hgvs_p": null,
"transcript": "ENST00000672739.1",
"protein_id": "ENSP00000500512.1",
"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": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLN",
"gene_hgnc_id": 18870,
"dbsnp": "rs9328764",
"frequency_reference_population": 0.1397545,
"hom_count_reference_population": 24550,
"allele_count_reference_population": 224479,
"gnomad_exomes_af": 0.128568,
"gnomad_genomes_af": 0.24685,
"gnomad_exomes_ac": 186981,
"gnomad_genomes_ac": 37498,
"gnomad_exomes_homalt": 17407,
"gnomad_genomes_homalt": 7143,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0006107091903686523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.0534,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.517,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "ENST00000511885.6",
"gene_symbol": "POLN",
"hgnc_id": 18870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000672725.1",
"gene_symbol": "ENSG00000290263",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2636C>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
}