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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: 3-184319426-GGTGTGTGTGTGTGTGTGTGTGTGTGT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184319426&ref=GGTGTGTGTGTGTGTGTGTGTGTGTGT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184319426,
"ref": "GGTGTGTGTGTGTGTGTGTGTGTGTGT",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001194946.2",
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-248_425-223delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_198241.3",
"protein_id": "NP_937884.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1599,
"cds_start": null,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346169.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198241.3"
},
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000346169.7",
"protein_id": "ENSP00000316879.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1599,
"cds_start": null,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346169.7"
},
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.446-262_446-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000352767.7",
"protein_id": "ENSP00000338020.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": null,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352767.7"
},
{
"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": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.446-262_446-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000382330.7",
"protein_id": "ENSP00000371767.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1606,
"cds_start": null,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382330.7"
},
{
"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": 32,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000342981.8",
"protein_id": "ENSP00000343450.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1600,
"cds_start": null,
"cds_end": null,
"cds_length": 4803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342981.8"
},
{
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.305-262_305-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000411531.5",
"protein_id": "ENSP00000395974.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": null,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411531.5"
},
{
"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": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.305-262_305-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000414031.5",
"protein_id": "ENSP00000391935.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414031.5"
},
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.-68-262_-68-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000350481.9",
"protein_id": "ENSP00000317600.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1435,
"cds_start": null,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350481.9"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.-69+184_-69+209delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000444861.5",
"protein_id": "ENSP00000398145.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444861.5"
},
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "n.-68-262_-68-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000442406.5",
"protein_id": "ENSP00000400351.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000442406.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.446-248_446-223delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001194946.2",
"protein_id": "NP_001181875.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001194946.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.446-248_446-223delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_001194947.2",
"protein_id": "NP_001181876.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "NM_001194947.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 5,
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"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.446-262_446-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
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"transcript": "ENST00000424196.5",
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},
{
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],
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"gene_symbol": "EIF4G1",
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"hgvs_c": "c.425-248_425-223delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "NM_182917.4",
"protein_id": "NP_886553.3",
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"biotype": "protein_coding",
"feature": "NM_182917.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 32,
"intron_rank": 5,
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"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
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"transcript": "ENST00000891266.1",
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},
{
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],
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"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
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"transcript": "ENST00000891267.1",
"protein_id": "ENSP00000561326.1",
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"feature": "ENST00000891267.1"
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000891269.1",
"protein_id": "ENSP00000561328.1",
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},
{
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],
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"gene_symbol": "EIF4G1",
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},
{
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],
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},
{
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],
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"gene_symbol": "EIF4G1",
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"protein_id": "ENSP00000561327.1",
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"feature": "ENST00000891268.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 6,
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"gene_symbol": "EIF4G1",
"gene_hgnc_id": 3296,
"hgvs_c": "c.425-262_425-237delGTGTGTGTGTGTGTGTGTGTGTGTGT",
"hgvs_p": null,
"transcript": "ENST00000915015.1",
"protein_id": "ENSP00000585074.1",
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},
{
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"protein_coding": true,
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"consequences": [
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.738,
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"apogee2_score": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001194946.2",
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"inheritance_mode": "Unknown,AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}