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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: 18-12986918-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12986918&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEH1L",
"hgnc_id": 30379,
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001013437.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "CEP192-DT",
"hgnc_id": 55313,
"hgvs_c": "n.222G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000588211.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 127,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0971,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "18",
"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": 0.011029630899429321,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001013437.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399892.7",
"protein_coding": true,
"protein_id": "NP_001013455.1",
"strand": true,
"transcript": "NM_001013437.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1127,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000399892.7",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1127C>G",
"hgvs_p": "p.Ala376Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001013437.2",
"protein_coding": true,
"protein_id": "ENSP00000382779.1",
"strand": true,
"transcript": "ENST00000399892.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": null,
"cds_end": null,
"cds_length": 1083,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000262124.15",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.*1666C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262124.10",
"strand": true,
"transcript": "ENST00000262124.15",
"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": 5206,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000590843.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "n.4593C>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": "ENST00000590843.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1223,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962384.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1223C>G",
"hgvs_p": "p.Ala408Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632443.1",
"strand": true,
"transcript": "ENST00000962384.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 388,
"aa_ref": "A",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1728,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1167,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962386.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1028C>G",
"hgvs_p": "p.Ala343Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632445.1",
"strand": true,
"transcript": "ENST00000962386.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 374,
"aa_ref": "A",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1125,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906957.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Ala329Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577016.1",
"strand": true,
"transcript": "ENST00000906957.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 1119,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906956.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.980C>G",
"hgvs_p": "p.Ala327Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577015.1",
"strand": true,
"transcript": "ENST00000906956.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 325,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 977,
"cds_end": null,
"cds_length": 978,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962385.1",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.839C>G",
"hgvs_p": "p.Ala280Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632444.1",
"strand": true,
"transcript": "ENST00000962385.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 441,
"aa_ref": "A",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011525742.4",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1187C>G",
"hgvs_p": "p.Ala396Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524044.1",
"strand": true,
"transcript": "XM_011525742.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "A",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1179,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011525743.3",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.1040C>G",
"hgvs_p": "p.Ala347Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524045.1",
"strand": true,
"transcript": "XM_011525743.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "A",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 1091,
"cds_end": null,
"cds_length": 1119,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005258152.5",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.980C>G",
"hgvs_p": "p.Ala327Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258209.1",
"strand": true,
"transcript": "XM_005258152.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": null,
"cds_end": null,
"cds_length": 1083,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_031216.4",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.*1666C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_112493.2",
"strand": true,
"transcript": "NM_031216.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 380,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": null,
"cds_end": null,
"cds_length": 1143,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011525744.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.*1666C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524046.1",
"strand": true,
"transcript": "XM_011525744.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": null,
"cds_end": null,
"cds_length": 936,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017026025.2",
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"hgvs_c": "c.*1666C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881514.1",
"strand": true,
"transcript": "XM_017026025.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000588211.1",
"gene_hgnc_id": 55313,
"gene_symbol": "CEP192-DT",
"hgvs_c": "n.222G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588211.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 429,
"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": "ENST00000771123.1",
"gene_hgnc_id": 55313,
"gene_symbol": "CEP192-DT",
"hgvs_c": "n.236G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000771123.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138726079",
"effect": "missense_variant",
"frequency_reference_population": 0.00007872854,
"gene_hgnc_id": 30379,
"gene_symbol": "SEH1L",
"gnomad_exomes_ac": 59,
"gnomad_exomes_af": 0.0000403795,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 68,
"gnomad_genomes_af": 0.000447363,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.949,
"pos": 12986918,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.082,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001013437.2"
}
]
}