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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: 5-34796010-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=34796010&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAI14",
"hgnc_id": 14873,
"hgvs_c": "c.248C>G",
"hgvs_p": "p.Thr83Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001145525.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.1939,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.01,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.41144636273384094,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4986,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015577.3",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265109.8",
"protein_coding": true,
"protein_id": "NP_056392.2",
"strand": true,
"transcript": "NM_015577.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4986,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000265109.8",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015577.3",
"protein_coding": true,
"protein_id": "ENSP00000265109.3",
"strand": true,
"transcript": "ENST00000265109.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 983,
"aa_ref": "T",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 740,
"cds_end": null,
"cds_length": 2952,
"cds_start": 248,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000515799.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.248C>G",
"hgvs_p": "p.Thr83Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427123.1",
"strand": true,
"transcript": "ENST00000515799.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5064,
"cdna_start": 514,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000428746.6",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388725.2",
"strand": true,
"transcript": "ENST00000428746.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 367,
"cds_end": null,
"cds_length": 2919,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000506376.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.215C>G",
"hgvs_p": "p.Thr72Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423854.1",
"strand": true,
"transcript": "ENST00000506376.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2941,
"cdna_start": 324,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512629.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422377.1",
"strand": true,
"transcript": "ENST00000512629.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000508777.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "n.*22C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423965.1",
"strand": true,
"transcript": "ENST00000508777.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000508777.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "n.*22C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423965.1",
"strand": true,
"transcript": "ENST00000508777.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 983,
"aa_ref": "T",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5338,
"cdna_start": 787,
"cds_end": null,
"cds_length": 2952,
"cds_start": 248,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001145525.2",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.248C>G",
"hgvs_p": "p.Thr83Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138997.1",
"strand": true,
"transcript": "NM_001145525.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 493,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145520.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138992.1",
"strand": true,
"transcript": "NM_001145520.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": 606,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001145521.2",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138993.1",
"strand": true,
"transcript": "NM_001145521.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 595,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000503673.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422942.1",
"strand": true,
"transcript": "ENST00000503673.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 980,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5078,
"cdna_start": 527,
"cds_end": null,
"cds_length": 2943,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957306.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627365.1",
"strand": true,
"transcript": "ENST00000957306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 972,
"aa_ref": "T",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 367,
"cds_end": null,
"cds_length": 2919,
"cds_start": 215,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145523.2",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.215C>G",
"hgvs_p": "p.Thr72Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138995.1",
"strand": true,
"transcript": "NM_001145523.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145522.2",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138994.1",
"strand": true,
"transcript": "NM_001145522.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 514,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902575.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572634.1",
"strand": true,
"transcript": "ENST00000902575.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 591,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902576.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572635.1",
"strand": true,
"transcript": "ENST00000902576.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4987,
"cdna_start": 524,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000957307.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627366.1",
"strand": true,
"transcript": "ENST00000957307.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": 423,
"cds_end": null,
"cds_length": 2856,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000957308.1",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627367.1",
"strand": true,
"transcript": "ENST00000957308.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 149,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 554,
"cdna_start": 343,
"cds_end": null,
"cds_length": 450,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512625.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425115.1",
"strand": true,
"transcript": "ENST00000512625.5",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 138,
"aa_ref": "T",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 660,
"cdna_start": 481,
"cds_end": null,
"cds_length": 418,
"cds_start": 239,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000514527.5",
"gene_hgnc_id": 14873,
"gene_symbol": "RAI14",
"hgvs_c": "c.239C>G",
"hgvs_p": "p.Thr80Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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