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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: 22-33650384-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33650384&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_004737.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 886,
"alphamissense_prediction": null,
"alphamissense_score": 0.0706,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "22",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Muscular dystrophy-dystroglycanopathy type B6,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012152314186096191,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_133642.5",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397394.8",
"protein_coding": true,
"protein_id": "NP_598397.1",
"strand": false,
"transcript": "NM_133642.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000397394.8",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133642.5",
"protein_coding": true,
"protein_id": "ENSP00000380549.2",
"strand": false,
"transcript": "ENST00000397394.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 963,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000354992.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347088.2",
"strand": false,
"transcript": "ENST00000354992.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 704,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 893,
"cds_end": null,
"cds_length": 2115,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000402320.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385223.1",
"strand": false,
"transcript": "ENST00000402320.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2340,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000911682.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581741.1",
"strand": false,
"transcript": "ENST00000911682.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2340,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966032.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636091.1",
"strand": false,
"transcript": "ENST00000966032.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 740,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001362949.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349878.1",
"strand": false,
"transcript": "NM_001362949.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 560,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362951.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349880.1",
"strand": false,
"transcript": "NM_001362951.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": 677,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001362953.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349882.1",
"strand": false,
"transcript": "NM_001362953.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": 623,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378624.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365553.1",
"strand": false,
"transcript": "NM_001378624.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 758,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001378625.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365554.1",
"strand": false,
"transcript": "NM_001378625.1",
"transcript_support_level": null
},
{
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"aa_length": 756,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 695,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378626.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365555.1",
"strand": false,
"transcript": "NM_001378626.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1018,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004737.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004728.1",
"strand": false,
"transcript": "NM_004737.7",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 757,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000413114.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415546.2",
"strand": false,
"transcript": "ENST00000413114.6",
"transcript_support_level": 4
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675416.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502826.1",
"strand": false,
"transcript": "ENST00000675416.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 682,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676070.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502152.1",
"strand": false,
"transcript": "ENST00000676070.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 592,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
"exon_rank": 4,
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"feature": "ENST00000676132.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501854.1",
"strand": false,
"transcript": "ENST00000676132.1",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 593,
"cds_end": null,
"cds_length": 2271,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676370.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502238.1",
"strand": false,
"transcript": "ENST00000676370.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 945,
"cds_end": null,
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"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899788.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569847.1",
"strand": false,
"transcript": "ENST00000899788.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899791.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569850.1",
"strand": false,
"transcript": "ENST00000899791.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 819,
"cds_end": null,
"cds_length": 2271,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000899792.1",
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},
{
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}
],
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"dbsnp": "rs56239539",
"effect": "missense_variant",
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not specified|not provided|Muscular dystrophy-dystroglycanopathy type B6|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}