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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: 14-24148029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24148029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "RNF31",
"hgnc_id": 16031,
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001310332.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000259529",
"hgnc_id": null,
"hgvs_c": "n.246C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000558468.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 360655,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559275.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453574.1",
"strand": true,
"transcript": "ENST00000559275.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 447,
"cds_end": null,
"cds_length": 3219,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_017999.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324103.11",
"protein_coding": true,
"protein_id": "NP_060469.4",
"strand": true,
"transcript": "NM_017999.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 447,
"cds_end": null,
"cds_length": 3219,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000324103.11",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017999.5",
"protein_coding": true,
"protein_id": "ENSP00000315112.6",
"strand": true,
"transcript": "ENST00000324103.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559275.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453574.1",
"strand": true,
"transcript": "ENST00000559275.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000558468.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000259529",
"hgvs_c": "n.246C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457512.2",
"strand": true,
"transcript": "ENST00000558468.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 921,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": null,
"cds_end": null,
"cds_length": 2766,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001310332.2",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001297261.1",
"strand": true,
"transcript": "NM_001310332.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 887,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": null,
"cds_end": null,
"cds_length": 2664,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559533.6",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454048.2",
"strand": true,
"transcript": "ENST00000559533.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 59,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": null,
"cds_end": null,
"cds_length": 182,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000560071.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453948.1",
"strand": true,
"transcript": "ENST00000560071.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 51,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": 158,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559308.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453471.1",
"strand": true,
"transcript": "ENST00000559308.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 31,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 551,
"cdna_start": null,
"cds_end": null,
"cds_length": 96,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000559260.5",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.-310C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453645.1",
"strand": true,
"transcript": "ENST00000559260.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 416,
"cds_end": null,
"cds_length": 3258,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949516.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619575.1",
"strand": true,
"transcript": "ENST00000949516.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 408,
"cds_end": null,
"cds_length": 3234,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000886644.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556703.1",
"strand": true,
"transcript": "ENST00000886644.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 495,
"cds_end": null,
"cds_length": 3216,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000886640.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556699.1",
"strand": true,
"transcript": "ENST00000886640.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 488,
"cds_end": null,
"cds_length": 3216,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000886641.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556700.1",
"strand": true,
"transcript": "ENST00000886641.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": 413,
"cds_end": null,
"cds_length": 3213,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000912695.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582754.1",
"strand": true,
"transcript": "ENST00000912695.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3195,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000912694.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582753.1",
"strand": true,
"transcript": "ENST00000912694.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1055,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3451,
"cdna_start": 447,
"cds_end": null,
"cds_length": 3168,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000699885.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514674.1",
"strand": true,
"transcript": "ENST00000699885.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 445,
"cds_end": null,
"cds_length": 3009,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000886642.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556701.1",
"strand": true,
"transcript": "ENST00000886642.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 989,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2970,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000886643.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556702.1",
"strand": true,
"transcript": "ENST00000886643.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 314,
"cds_end": null,
"cds_length": 2616,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000949517.1",
"gene_hgnc_id": 16031,
"gene_symbol": "RNF31",
"hgvs_c": "c.246C>T",
"hgvs_p": "p.Tyr82Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619576.1",
"strand": true,
"transcript": "ENST00000949517.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 493,
"aa_ref": "Y",
"aa_start": 82,
"biotype": "protein_coding",
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}
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}