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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: 1-28971164-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=28971164&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 28971164,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000343067.9",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "NM_001376013.1",
"protein_id": "NP_001362942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": "ENST00000343067.9",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "ENST00000343067.9",
"protein_id": "ENSP00000345259.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": "NM_001376013.1",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "ENST00000349460.9",
"protein_id": "ENSP00000317597.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2937,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "ENST00000347529.7",
"protein_id": "ENSP00000290100.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2676,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "ENST00000373797.2",
"protein_id": "ENSP00000362903.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": -4,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2407,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-697-16284T>C",
"hgvs_p": null,
"transcript": "ENST00000373800.7",
"protein_id": "ENSP00000362906.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": -4,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "NM_001166005.2",
"protein_id": "NP_001159477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5942,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "ENST00000373798.5",
"protein_id": "ENSP00000362904.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5933,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "NM_001376014.1",
"protein_id": "NP_001362943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5962,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "NM_001376015.1",
"protein_id": "NP_001362944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
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"cds_length": 2490,
"cdna_start": null,
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"cdna_length": 5926,
"mane_select": null,
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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,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "EPB41",
"gene_hgnc_id": 3377,
"hgvs_c": "c.-7-16267T>C",
"hgvs_p": null,
"transcript": "NM_001376016.1",
"protein_id": "NP_001362945.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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"transcript": "ENST00000706361.1",
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},
{
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],
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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"transcript": "ENST00000650265.1",
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},
{
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],
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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},
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],
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"transcript": "ENST00000644600.1",
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},
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],
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"gene_symbol": "EPB41",
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"gene_symbol": "EPB41",
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},
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],
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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"transcript": "ENST00000643604.1",
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],
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"gene_symbol": "EPB41",
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"transcript": "NM_001376020.1",
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},
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],
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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"transcript": "ENST00000644780.1",
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "EPB41",
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"hgvs_c": "c.-7-16267T>C",
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},
{
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}
],
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.302086,
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"gnomad_genomes_ac": 43278,
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"gnomad_genomes_homalt": 8091,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.639,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000343067.9",
"gene_symbol": "EPB41",
"hgnc_id": 3377,
"effects": [
"intron_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.-7-16267T>C",
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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
}