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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: 22-50070565-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50070565&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MLC1",
"hgnc_id": 17082,
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_015166.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9452,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "22",
"clinvar_classification": "not provided",
"clinvar_disease": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9555976390838623,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015166.4",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311597.10",
"protein_coding": true,
"protein_id": "NP_055981.1",
"strand": false,
"transcript": "NM_015166.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000311597.10",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015166.4",
"protein_coding": true,
"protein_id": "ENSP00000310375.6",
"strand": false,
"transcript": "ENST00000311597.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000395876.6",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379216.2",
"strand": false,
"transcript": "ENST00000395876.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376472.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363401.1",
"strand": false,
"transcript": "NM_001376472.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376473.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363402.1",
"strand": false,
"transcript": "NM_001376473.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001376474.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363403.1",
"strand": false,
"transcript": "NM_001376474.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3614,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001376475.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363404.1",
"strand": false,
"transcript": "NM_001376475.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001376476.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363405.1",
"strand": false,
"transcript": "NM_001376476.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376477.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363406.1",
"strand": false,
"transcript": "NM_001376477.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001376478.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363407.1",
"strand": false,
"transcript": "NM_001376478.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_139202.3",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_631941.1",
"strand": false,
"transcript": "NM_139202.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3811,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879262.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549321.1",
"strand": false,
"transcript": "ENST00000879262.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879263.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549322.1",
"strand": false,
"transcript": "ENST00000879263.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879267.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549327.1",
"strand": false,
"transcript": "ENST00000879267.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3358,
"cdna_start": 771,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879270.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549329.1",
"strand": false,
"transcript": "ENST00000879270.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879274.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549333.1",
"strand": false,
"transcript": "ENST00000879274.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 377,
"aa_ref": "A",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1134,
"cds_start": 733,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879275.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.733G>C",
"hgvs_p": "p.Ala245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549334.1",
"strand": false,
"transcript": "ENST00000879275.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1044,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376480.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.643G>C",
"hgvs_p": "p.Ala215Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363409.1",
"strand": false,
"transcript": "NM_001376480.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "A",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1032,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376481.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Ala211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363410.1",
"strand": false,
"transcript": "NM_001376481.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 343,
"aa_ref": "A",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1032,
"cds_start": 631,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879272.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Ala211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549331.1",
"strand": false,
"transcript": "ENST00000879272.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3301,
"cdna_start": 708,
"cds_end": null,
"cds_length": 978,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001376482.1",
"gene_hgnc_id": 17082,
"gene_symbol": "MLC1",
"hgvs_c": "c.577G>C",
"hgvs_p": "p.Ala193Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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