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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: 1-44897378-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44897378&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44897378,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000360403.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "NM_020365.5",
"protein_id": "NP_065098.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 633,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "ENST00000360403.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "ENST00000360403.7",
"protein_id": "ENSP00000353575.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 452,
"cds_start": 633,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "NM_020365.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "ENST00000372183.7",
"protein_id": "ENSP00000361257.3",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 412,
"cds_start": 633,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "ENST00000620860.4",
"protein_id": "ENSP00000483996.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 401,
"cds_start": 633,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "NM_001166588.3",
"protein_id": "NP_001160060.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 412,
"cds_start": 633,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile",
"transcript": "NM_001261418.2",
"protein_id": "NP_001248347.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 401,
"cds_start": 633,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.93C>T",
"hgvs_p": "p.Ile31Ile",
"transcript": "ENST00000439363.5",
"protein_id": "ENSP00000396985.1",
"transcript_support_level": 3,
"aa_start": 31,
"aa_end": null,
"aa_length": 221,
"cds_start": 93,
"cds_end": null,
"cds_length": 666,
"cdna_start": 95,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Ile82Ile",
"transcript": "XM_047433501.1",
"protein_id": "XP_047289457.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 323,
"cds_start": 246,
"cds_end": null,
"cds_length": 972,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1548,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.567-15639C>T",
"hgvs_p": null,
"transcript": "XM_047433499.1",
"protein_id": "XP_047289455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1810,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"hgvs_c": "c.567-15639C>T",
"hgvs_p": null,
"transcript": "XM_047433500.1",
"protein_id": "XP_047289456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EIF2B3",
"gene_hgnc_id": 3259,
"dbsnp": "rs139526549",
"frequency_reference_population": 0.0018209178,
"hom_count_reference_population": 75,
"allele_count_reference_population": 2938,
"gnomad_exomes_af": 0.00190051,
"gnomad_genomes_af": 0.00105724,
"gnomad_exomes_ac": 2777,
"gnomad_genomes_ac": 161,
"gnomad_exomes_homalt": 71,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04600000008940697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.478,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000360403.7",
"gene_symbol": "EIF2B3",
"hgnc_id": 3259,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Ile211Ile"
}
],
"clinvar_disease": "Vanishing white matter disease,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|Vanishing white matter disease|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}