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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: 3-23917906-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=23917906&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPL15",
"hgnc_id": 10306,
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002948.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NKIRAS1",
"hgnc_id": 17899,
"hgvs_c": "c.-139-6456G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001377380.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5198,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.720160961151123,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 99,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_002948.5",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307839.10",
"protein_coding": true,
"protein_id": "NP_002939.2",
"strand": true,
"transcript": "NM_002948.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 99,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000307839.10",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002948.5",
"protein_coding": true,
"protein_id": "ENSP00000309334.5",
"strand": true,
"transcript": "ENST00000307839.10",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 820,
"cdna_start": 202,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000354811.5",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346867.5",
"strand": true,
"transcript": "ENST00000354811.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 145,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": 92,
"cds_end": null,
"cds_length": 438,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000456530.7",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398788.2",
"strand": true,
"transcript": "ENST00000456530.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000465786.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000465786.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2743,
"cdna_start": 699,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001253379.2",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240308.1",
"strand": true,
"transcript": "NM_001253379.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 809,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001253380.2",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240309.1",
"strand": true,
"transcript": "NM_001253380.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 255,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001253382.2",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240311.1",
"strand": true,
"transcript": "NM_001253382.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 165,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001253383.3",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240312.1",
"strand": true,
"transcript": "NM_001253383.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 165,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000413699.7",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416692.1",
"strand": true,
"transcript": "ENST00000413699.7",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 216,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000415719.5",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388529.1",
"strand": true,
"transcript": "ENST00000415719.5",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 440,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000611050.4",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483260.1",
"strand": true,
"transcript": "ENST00000611050.4",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": 205,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000644185.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493759.1",
"strand": true,
"transcript": "ENST00000644185.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 94,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889023.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559082.1",
"strand": true,
"transcript": "ENST00000889023.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 134,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889024.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559083.1",
"strand": true,
"transcript": "ENST00000889024.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 188,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000889025.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559084.1",
"strand": true,
"transcript": "ENST00000889025.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3401,
"cdna_start": 162,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000913519.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583578.1",
"strand": true,
"transcript": "ENST00000913519.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 82,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000913520.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583579.1",
"strand": true,
"transcript": "ENST00000913520.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 137,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000913521.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583580.1",
"strand": true,
"transcript": "ENST00000913521.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 121,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000913522.1",
"gene_hgnc_id": 10306,
"gene_symbol": "RPL15",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Ser16Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583581.1",
"strand": true,
"transcript": "ENST00000913522.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 172,
"cds_end": null,
"cds_length": 615,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
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"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.121,
"pos": 23917906,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.405,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05999999865889549,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.06,
"transcript": "NM_002948.5"
}
]
}