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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: 14-81486351-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=81486351&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 81486351,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005065.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"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.1736T>A",
"hgvs_p": "p.Leu579His",
"transcript": "NM_005065.6",
"protein_id": "NP_005056.3",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 794,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": "ENST00000336735.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005065.6"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1736T>A",
"hgvs_p": "p.Leu579His",
"transcript": "ENST00000336735.9",
"protein_id": "ENSP00000337053.4",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 794,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 7919,
"mane_select": "NM_005065.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336735.9"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1814T>A",
"hgvs_p": "p.Leu605His",
"transcript": "ENST00000870907.1",
"protein_id": "ENSP00000540966.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 820,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870907.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1739T>A",
"hgvs_p": "p.Leu580His",
"transcript": "ENST00000870906.1",
"protein_id": "ENSP00000540965.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 795,
"cds_start": 1739,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870906.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1736T>A",
"hgvs_p": "p.Leu579His",
"transcript": "ENST00000953129.1",
"protein_id": "ENSP00000623188.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 793,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953129.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1676T>A",
"hgvs_p": "p.Leu559His",
"transcript": "ENST00000953132.1",
"protein_id": "ENSP00000623191.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 774,
"cds_start": 1676,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1751,
"cdna_end": null,
"cdna_length": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953132.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1736T>A",
"hgvs_p": "p.Leu579His",
"transcript": "ENST00000953135.1",
"protein_id": "ENSP00000623194.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 773,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953135.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1667T>A",
"hgvs_p": "p.Leu556His",
"transcript": "ENST00000870905.1",
"protein_id": "ENSP00000540964.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 771,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 6483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870905.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1658T>A",
"hgvs_p": "p.Leu553His",
"transcript": "ENST00000953133.1",
"protein_id": "ENSP00000623192.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 768,
"cds_start": 1658,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953133.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1667T>A",
"hgvs_p": "p.Leu556His",
"transcript": "ENST00000953130.1",
"protein_id": "ENSP00000623189.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 750,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953130.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1568T>A",
"hgvs_p": "p.Leu523His",
"transcript": "ENST00000953131.1",
"protein_id": "ENSP00000623190.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 738,
"cds_start": 1568,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1664,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953131.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1736T>A",
"hgvs_p": "p.Leu579His",
"transcript": "ENST00000953134.1",
"protein_id": "ENSP00000623193.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 724,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953134.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1466T>A",
"hgvs_p": "p.Leu489His",
"transcript": "ENST00000870909.1",
"protein_id": "ENSP00000540968.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 704,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870909.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1385T>A",
"hgvs_p": "p.Leu462His",
"transcript": "ENST00000953128.1",
"protein_id": "ENSP00000623187.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 677,
"cds_start": 1385,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 6205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953128.1"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1673T>A",
"hgvs_p": "p.Leu558His",
"transcript": "XM_005267988.4",
"protein_id": "XP_005268045.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 773,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 7856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267988.4"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1667T>A",
"hgvs_p": "p.Leu556His",
"transcript": "XM_005267989.5",
"protein_id": "XP_005268046.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 771,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1776,
"cdna_end": null,
"cdna_length": 7850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267989.5"
},
{
"aa_ref": "L",
"aa_alt": "H",
"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.1604T>A",
"hgvs_p": "p.Leu535His",
"transcript": "XM_047431676.1",
"protein_id": "XP_047287632.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 750,
"cds_start": 1604,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1713,
"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+1039T>A",
"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": "rs546437725",
"frequency_reference_population": 0.000005575697,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478849,
"gnomad_genomes_af": 0.0000131313,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6732481718063354,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.38,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7282,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.933,
"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_005065.6",
"gene_symbol": "SEL1L",
"hgnc_id": 10717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1736T>A",
"hgvs_p": "p.Leu579His"
}
],
"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
}