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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: 3-149846042-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=149846042&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF13",
"hgnc_id": 10057,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_007282.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ANKUB1",
"hgnc_id": 29642,
"hgvs_c": "n.205C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000481585.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9573,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"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": 0.6116831302642822,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_183381.3",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392894.8",
"protein_coding": true,
"protein_id": "NP_899237.1",
"strand": true,
"transcript": "NM_183381.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392894.8",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183381.3",
"protein_coding": true,
"protein_id": "ENSP00000376628.3",
"strand": true,
"transcript": "ENST00000392894.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000344229.7",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341361.3",
"strand": true,
"transcript": "ENST00000344229.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 418,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1257,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910573.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580632.1",
"strand": true,
"transcript": "ENST00000910573.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 176,
"cds_end": null,
"cds_length": 1239,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910572.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580631.1",
"strand": true,
"transcript": "ENST00000910572.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1239,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910583.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580642.1",
"strand": true,
"transcript": "ENST00000910583.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1239,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000944877.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614936.1",
"strand": true,
"transcript": "ENST00000944877.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1215,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910565.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580624.1",
"strand": true,
"transcript": "ENST00000910565.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1215,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910568.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580627.1",
"strand": true,
"transcript": "ENST00000910568.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1215,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910582.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580641.1",
"strand": true,
"transcript": "ENST00000910582.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 404,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1215,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910586.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580645.1",
"strand": true,
"transcript": "ENST00000910586.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1158,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000944878.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614937.1",
"strand": true,
"transcript": "ENST00000944878.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001378285.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365214.1",
"strand": true,
"transcript": "NM_001378285.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 304,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001378286.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365215.1",
"strand": true,
"transcript": "NM_001378286.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_007282.4",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009213.1",
"strand": true,
"transcript": "NM_007282.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 137,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910566.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580625.1",
"strand": true,
"transcript": "ENST00000910566.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910567.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580626.1",
"strand": true,
"transcript": "ENST00000910567.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910569.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580628.1",
"strand": true,
"transcript": "ENST00000910569.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 198,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000910570.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580629.1",
"strand": true,
"transcript": "ENST00000910570.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000910571.1",
"gene_hgnc_id": 10057,
"gene_symbol": "RNF13",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580630.1",
"strand": true,
"transcript": "ENST00000910571.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "G",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 106,
"cds_end": null,
"cds_length": 1146,
"cds_start": 16,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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