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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: 2-54866705-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=54866705&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 54866705,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000356458.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "NM_001039753.4",
"protein_id": "NP_001034842.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1958,
"cds_start": -4,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": "ENST00000356458.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "ENST00000356458.8",
"protein_id": "ENSP00000348842.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1958,
"cds_start": -4,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8436,
"mane_select": "NM_001039753.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "n.281-61G>A",
"hgvs_p": null,
"transcript": "ENST00000493997.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 6320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 43,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "n.1933-61G>A",
"hgvs_p": null,
"transcript": "ENST00000673912.1",
"protein_id": "ENSP00000501234.1",
"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": 9947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "XM_017004098.3",
"protein_id": "XP_016859587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1966,
"cds_start": -4,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "XM_047444299.1",
"protein_id": "XP_047300255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1960,
"cds_start": -4,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "XM_047444300.1",
"protein_id": "XP_047300256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1925,
"cds_start": -4,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1795-61G>A",
"hgvs_p": null,
"transcript": "XM_047444302.1",
"protein_id": "XP_047300258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "XM_017004100.3",
"protein_id": "XP_016859589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1882,
"cds_start": -4,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1207-61G>A",
"hgvs_p": null,
"transcript": "XM_047444315.1",
"protein_id": "XP_047300271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1716,
"cds_start": -4,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.841-61G>A",
"hgvs_p": null,
"transcript": "XM_017004101.2",
"protein_id": "XP_016859590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1602,
"cds_start": -4,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "c.1933-61G>A",
"hgvs_p": null,
"transcript": "XM_017004102.2",
"protein_id": "XP_016859591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"hgvs_c": "n.2562-61G>A",
"hgvs_p": null,
"transcript": "XR_001738743.2",
"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": 4028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EML6",
"gene_hgnc_id": 35412,
"dbsnp": "rs1961245",
"frequency_reference_population": 0.40508053,
"hom_count_reference_population": 73407,
"allele_count_reference_population": 342528,
"gnomad_exomes_af": 0.395575,
"gnomad_genomes_af": 0.448441,
"gnomad_exomes_ac": 274347,
"gnomad_genomes_ac": 68181,
"gnomad_exomes_homalt": 57167,
"gnomad_genomes_homalt": 16240,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"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": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.005,
"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": "ENST00000356458.8",
"gene_symbol": "EML6",
"hgnc_id": 35412,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1933-61G>A",
"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
}