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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: 13-101715625-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=101715625&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 101715625,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004791.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "NM_004791.3",
"protein_id": "NP_004782.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 494,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": "ENST00000376180.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln",
"transcript": "ENST00000376180.8",
"protein_id": "ENSP00000365351.3",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 494,
"cds_start": 1456,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": "NM_004791.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1309G>C",
"hgvs_p": "p.Glu437Gln",
"transcript": "ENST00000618057.4",
"protein_id": "ENSP00000481484.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 445,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_004115.4",
"protein_id": "NP_004106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13071,
"mane_select": "ENST00000376143.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "ENST00000376143.5",
"protein_id": "ENSP00000365313.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13071,
"mane_select": "NM_004115.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "ENST00000376131.9",
"protein_id": "ENSP00000365301.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1309G>C",
"hgvs_p": "p.Glu437Gln",
"transcript": "NM_001271755.2",
"protein_id": "NP_001258684.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 445,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1177G>C",
"hgvs_p": "p.Glu393Gln",
"transcript": "NM_001271756.2",
"protein_id": "NP_001258685.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 401,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1177G>C",
"hgvs_p": "p.Glu393Gln",
"transcript": "ENST00000376162.7",
"protein_id": "ENSP00000365332.3",
"transcript_support_level": 2,
"aa_start": 393,
"aa_end": null,
"aa_length": 401,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Glu345Gln",
"transcript": "NM_001271754.2",
"protein_id": "NP_001258683.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 353,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.1033G>C",
"hgvs_p": "p.Glu345Gln",
"transcript": "ENST00000545560.6",
"protein_id": "ENSP00000439903.1",
"transcript_support_level": 2,
"aa_start": 345,
"aa_end": null,
"aa_length": 353,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 4808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"hgvs_c": "c.595G>C",
"hgvs_p": "p.Glu199Gln",
"transcript": "ENST00000490242.2",
"protein_id": "ENSP00000475328.1",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 207,
"cds_start": 595,
"cds_end": null,
"cds_length": 624,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_175929.3",
"protein_id": "NP_787125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321939.2",
"protein_id": "NP_001308868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321945.2",
"protein_id": "NP_001308874.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321948.2",
"protein_id": "NP_001308877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001379342.1",
"protein_id": "NP_001366271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321947.2",
"protein_id": "NP_001308876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321938.2",
"protein_id": "NP_001308867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321941.2",
"protein_id": "NP_001308870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 185,
"cds_start": -4,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGF14",
"gene_hgnc_id": 3671,
"hgvs_c": "c.*7206C>G",
"hgvs_p": null,
"transcript": "NM_001321946.2",
"protein_id": "NP_001308875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGBL1",
"gene_hgnc_id": 6164,
"dbsnp": "rs144243522",
"frequency_reference_population": 0.000031619787,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000321754,
"gnomad_genomes_af": 0.000026286,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6638803482055664,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.633,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6425,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.348,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004791.3",
"gene_symbol": "ITGBL1",
"hgnc_id": 6164,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Glu486Gln"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_004115.4",
"gene_symbol": "FGF14",
"hgnc_id": 3671,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.*7206C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}