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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: 12-112406878-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112406878&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL6",
"hgnc_id": 10362,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000970.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9897,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7748783230781555,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 368,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_000970.6",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000202773.14",
"protein_coding": true,
"protein_id": "NP_000961.2",
"strand": false,
"transcript": "NM_000970.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 368,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000202773.14",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000970.6",
"protein_coding": true,
"protein_id": "ENSP00000202773.9",
"strand": false,
"transcript": "ENST00000202773.14",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1074,
"cdna_start": 535,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000424576.6",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403172.2",
"strand": false,
"transcript": "ENST00000424576.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "P",
"aa_start": 143,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 998,
"cdna_start": 446,
"cds_end": null,
"cds_length": 945,
"cds_start": 427,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935343.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Pro143Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605402.1",
"strand": false,
"transcript": "ENST00000935343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 290,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 925,
"cdna_start": 368,
"cds_end": null,
"cds_length": 873,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895617.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565676.1",
"strand": false,
"transcript": "ENST00000895617.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 290,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": 535,
"cds_end": null,
"cds_length": 873,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935344.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605403.1",
"strand": false,
"transcript": "ENST00000935344.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1106,
"cdna_start": 553,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001024662.3",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001019833.1",
"strand": false,
"transcript": "NM_001024662.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 558,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320137.2",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307066.1",
"strand": false,
"transcript": "NM_001320137.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1138,
"cdna_start": 585,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320138.2",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307067.1",
"strand": false,
"transcript": "NM_001320138.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 432,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320139.2",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307068.1",
"strand": false,
"transcript": "NM_001320139.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1147,
"cdna_start": 594,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320140.2",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307069.1",
"strand": false,
"transcript": "NM_001320140.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1238,
"cdna_start": 685,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320141.2",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307070.1",
"strand": false,
"transcript": "NM_001320141.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 848,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000895614.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565673.1",
"strand": false,
"transcript": "ENST00000895614.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1092,
"cdna_start": 540,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895618.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565677.1",
"strand": false,
"transcript": "ENST00000895618.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1436,
"cdna_start": 884,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895619.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565678.1",
"strand": false,
"transcript": "ENST00000895619.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": 455,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000895620.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565679.1",
"strand": false,
"transcript": "ENST00000895620.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 624,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935347.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605406.1",
"strand": false,
"transcript": "ENST00000935347.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 288,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1722,
"cds_end": null,
"cds_length": 867,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955984.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626043.1",
"strand": false,
"transcript": "ENST00000955984.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 285,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 962,
"cdna_start": 403,
"cds_end": null,
"cds_length": 858,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935336.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Pro114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605395.1",
"strand": false,
"transcript": "ENST00000935336.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 285,
"aa_ref": "P",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 535,
"cds_end": null,
"cds_length": 858,
"cds_start": 349,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935345.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Pro117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605404.1",
"strand": false,
"transcript": "ENST00000935345.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 285,
"aa_ref": "P",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1078,
"cdna_start": 526,
"cds_end": null,
"cds_length": 858,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935346.1",
"gene_hgnc_id": 10362,
"gene_symbol": "RPL6",
"hgvs_c": "c.340C>T",
"hgvs_p": "p.Pro114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605405.1",
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],
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
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]
}