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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: 3-49532293-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49532293&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DAG1",
"hgnc_id": 2666,
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_004393.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "3",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004393.6",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308775.7",
"protein_coding": true,
"protein_id": "NP_004384.5",
"strand": true,
"transcript": "NM_004393.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5387,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000308775.7",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004393.6",
"protein_coding": true,
"protein_id": "ENSP00000312435.2",
"strand": true,
"transcript": "ENST00000308775.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 2426,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001165928.4",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159400.3",
"strand": true,
"transcript": "NM_001165928.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5691,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001177634.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171105.2",
"strand": true,
"transcript": "NM_001177634.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5280,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177635.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171106.2",
"strand": true,
"transcript": "NM_001177635.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": 2347,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001177636.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171107.2",
"strand": true,
"transcript": "NM_001177636.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5507,
"cdna_start": 2185,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177637.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171108.2",
"strand": true,
"transcript": "NM_001177637.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 2216,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177638.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171109.2",
"strand": true,
"transcript": "NM_001177638.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5228,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177639.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171110.2",
"strand": true,
"transcript": "NM_001177639.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 2122,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177640.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171111.2",
"strand": true,
"transcript": "NM_001177640.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5534,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177641.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171112.2",
"strand": true,
"transcript": "NM_001177641.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5439,
"cdna_start": 2117,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001177642.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171113.2",
"strand": true,
"transcript": "NM_001177642.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177643.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171114.2",
"strand": true,
"transcript": "NM_001177643.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 2205,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001177644.3",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171115.2",
"strand": true,
"transcript": "NM_001177644.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6032,
"cdna_start": 2710,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001438880.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425809.1",
"strand": true,
"transcript": "NM_001438880.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001438881.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425810.1",
"strand": true,
"transcript": "NM_001438881.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": 2583,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438882.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425811.1",
"strand": true,
"transcript": "NM_001438882.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 895,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438883.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425812.1",
"strand": true,
"transcript": "NM_001438883.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 2452,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438884.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425813.1",
"strand": true,
"transcript": "NM_001438884.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5595,
"cdna_start": 2273,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438885.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
"hgvs_p": "p.His594His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425814.1",
"strand": true,
"transcript": "NM_001438885.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 895,
"aa_ref": "H",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5680,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2688,
"cds_start": 1782,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438886.1",
"gene_hgnc_id": 2666,
"gene_symbol": "DAG1",
"hgvs_c": "c.1782C>T",
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