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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: 22-33304434-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33304434&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_004737.7",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.9952,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "22",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "LARGE1-Related Disorders,Muscular dystrophy-dystroglycanopathy type B6",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9236036539077759,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_133642.5",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397394.8",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4193,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000354992.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 704,
"aa_ref": "E",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3967,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402320.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Glu457Lys",
"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": "K",
"aa_end": null,
"aa_length": 779,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 2618,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000911682.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 779,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4845,
"cdna_start": 2692,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966032.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1874,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362949.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4358,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362951.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4475,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362953.2",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4421,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378624.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001378625.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365554.1",
"strand": false,
"transcript": "NM_001378625.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378626.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365555.1",
"strand": false,
"transcript": "NM_001378626.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 2152,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004737.7",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": 1891,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000413114.6",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415546.2",
"strand": false,
"transcript": "ENST00000413114.6",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000675416.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
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"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3912,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676070.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
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"aa_length": 756,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676132.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501854.1",
"strand": false,
"transcript": "ENST00000676132.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1727,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000676370.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502238.1",
"strand": false,
"transcript": "ENST00000676370.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 2079,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899788.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4101,
"cdna_start": 2004,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000899791.1",
"gene_hgnc_id": 6511,
"gene_symbol": "LARGE1",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Glu509Lys",
"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": "K",
"aa_end": null,
"aa_length": 756,
"aa_ref": "E",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
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]
}