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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: 14-81486357-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=81486357&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 81486357,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005065.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg",
"transcript": "NM_005065.6",
"protein_id": "NP_005056.3",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 794,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": "ENST00000336735.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005065.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg",
"transcript": "ENST00000336735.9",
"protein_id": "ENSP00000337053.4",
"transcript_support_level": 1,
"aa_start": 577,
"aa_end": null,
"aa_length": 794,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": "NM_005065.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336735.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1808A>G",
"hgvs_p": "p.Gln603Arg",
"transcript": "ENST00000870907.1",
"protein_id": "ENSP00000540966.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 820,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870907.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1733A>G",
"hgvs_p": "p.Gln578Arg",
"transcript": "ENST00000870906.1",
"protein_id": "ENSP00000540965.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 795,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870906.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg",
"transcript": "ENST00000953129.1",
"protein_id": "ENSP00000623188.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 793,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953129.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Gln557Arg",
"transcript": "ENST00000953132.1",
"protein_id": "ENSP00000623191.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 774,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953132.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg",
"transcript": "ENST00000953135.1",
"protein_id": "ENSP00000623194.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 773,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953135.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Gln554Arg",
"transcript": "ENST00000870905.1",
"protein_id": "ENSP00000540964.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 771,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870905.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1652A>G",
"hgvs_p": "p.Gln551Arg",
"transcript": "ENST00000953133.1",
"protein_id": "ENSP00000623192.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 768,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1715,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953133.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Gln554Arg",
"transcript": "ENST00000953130.1",
"protein_id": "ENSP00000623189.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 750,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953130.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1562A>G",
"hgvs_p": "p.Gln521Arg",
"transcript": "ENST00000953131.1",
"protein_id": "ENSP00000623190.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 738,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953131.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg",
"transcript": "ENST00000953134.1",
"protein_id": "ENSP00000623193.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 724,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953134.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "ENST00000870909.1",
"protein_id": "ENSP00000540968.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 704,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870909.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1379A>G",
"hgvs_p": "p.Gln460Arg",
"transcript": "ENST00000953128.1",
"protein_id": "ENSP00000623187.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 677,
"cds_start": 1379,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953128.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1667A>G",
"hgvs_p": "p.Gln556Arg",
"transcript": "XM_005267988.4",
"protein_id": "XP_005268045.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 773,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267988.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.Gln554Arg",
"transcript": "XM_005267989.5",
"protein_id": "XP_005268046.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 771,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 7850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267989.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1598A>G",
"hgvs_p": "p.Gln533Arg",
"transcript": "XM_047431676.1",
"protein_id": "XP_047287632.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 750,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 7787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431676.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"hgvs_c": "c.1632+1033A>G",
"hgvs_p": null,
"transcript": "ENST00000870908.1",
"protein_id": "ENSP00000540967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": null,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870908.1"
}
],
"gene_symbol": "SEL1L",
"gene_hgnc_id": 10717,
"dbsnp": "rs375576886",
"frequency_reference_population": 0.000014869207,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000116291,
"gnomad_genomes_af": 0.0000459861,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5449920892715454,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.477,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.663,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005065.6",
"gene_symbol": "SEL1L",
"hgnc_id": 10717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1730A>G",
"hgvs_p": "p.Gln577Arg"
}
],
"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
}