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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: X-155026993-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=155026993&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 155026993,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023934.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "NM_023934.4",
"protein_id": "NP_076423.2",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 189,
"cds_start": 55,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369498.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023934.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "ENST00000369498.8",
"protein_id": "ENSP00000358510.3",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 189,
"cds_start": 55,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023934.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369498.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "ENST00000856523.1",
"protein_id": "ENSP00000526582.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 189,
"cds_start": 55,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856523.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "ENST00000942567.1",
"protein_id": "ENSP00000612626.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 189,
"cds_start": 55,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942567.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "ENST00000856525.1",
"protein_id": "ENSP00000526584.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 182,
"cds_start": 55,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856525.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr",
"transcript": "ENST00000856524.1",
"protein_id": "ENSP00000526583.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 145,
"cds_start": 55,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "n.242+313C>T",
"hgvs_p": null,
"transcript": "ENST00000475165.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000475165.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.-176G>A",
"hgvs_p": null,
"transcript": "ENST00000423959.5",
"protein_id": "ENSP00000409446.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423959.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F8",
"gene_hgnc_id": 3546,
"hgvs_c": "c.-176G>A",
"hgvs_p": null,
"transcript": "ENST00000453950.1",
"protein_id": "ENSP00000389153.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453950.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"hgvs_c": "n.-160C>T",
"hgvs_p": null,
"transcript": "ENST00000484175.5",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484175.5"
}
],
"gene_symbol": "FUNDC2",
"gene_hgnc_id": 24925,
"dbsnp": "rs1455563669",
"frequency_reference_population": 0.000019137402,
"hom_count_reference_population": 9,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000201888,
"gnomad_genomes_af": 0.00000891902,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06577575206756592,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0748,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.269,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_023934.4",
"gene_symbol": "FUNDC2",
"hgnc_id": 24925,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.55C>T",
"hgvs_p": "p.His19Tyr"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000423959.5",
"gene_symbol": "F8",
"hgnc_id": 3546,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-176G>A",
"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
}