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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: 2-232553262-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232553262&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232553262,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000258416.8",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_004846.4",
"protein_id": "NP_004837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 967,
"mane_select": "ENST00000258416.8",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000258416.8",
"protein_id": "ENSP00000258416.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 967,
"mane_select": "NM_004846.4",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409098.5",
"protein_id": "ENSP00000386996.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3448,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.5+2044A>G",
"hgvs_p": null,
"transcript": "NM_001330202.2",
"protein_id": "NP_001317131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1063,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_001282958.2",
"protein_id": "NP_001269887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3521,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409514.5",
"protein_id": "ENSP00000387336.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3525,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_001276336.2",
"protein_id": "NP_001263265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409495.6",
"protein_id": "ENSP00000386876.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2693,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.5+2044A>G",
"hgvs_p": null,
"transcript": "ENST00000454501.1",
"protein_id": "ENSP00000390904.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": -4,
"cds_end": null,
"cds_length": 641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1048,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_001330201.2",
"protein_id": "NP_001317130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 832,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409322.5",
"protein_id": "ENSP00000386424.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_001330203.2",
"protein_id": "NP_001317132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": -4,
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"cds_length": 576,
"cdna_start": null,
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"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000687222.1",
"protein_id": "ENSP00000508671.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 191,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "NM_001276337.2",
"protein_id": "NP_001263266.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409394.5",
"protein_id": "ENSP00000386983.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 570,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.20+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000409167.8",
"protein_id": "ENSP00000387328.3",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "c.-31+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000690794.1",
"protein_id": "ENSP00000509248.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "n.71+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000463074.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "n.414-593A>G",
"hgvs_p": null,
"transcript": "ENST00000479834.1",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "n.54+2518A>G",
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"transcript": "ENST00000498242.5",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"hgvs_c": "n.81+2518A>G",
"hgvs_p": null,
"transcript": "ENST00000689278.1",
"protein_id": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "EIF4E2",
"gene_hgnc_id": 3293,
"dbsnp": "rs10498262",
"frequency_reference_population": 0.033817917,
"hom_count_reference_population": 152,
"allele_count_reference_population": 5034,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0338179,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 5034,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 152,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"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": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.607,
"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": "ENST00000258416.8",
"gene_symbol": "EIF4E2",
"hgnc_id": 3293,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.20+2518A>G",
"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
}