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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: 2-210031536-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=210031536&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 210031536,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_152519.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "NM_152519.4",
"protein_id": "NP_689732.2",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281772.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152519.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "ENST00000281772.14",
"protein_id": "ENSP00000281772.8",
"transcript_support_level": 5,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152519.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281772.14"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2030-1618T>C",
"hgvs_p": null,
"transcript": "ENST00000418791.5",
"protein_id": "ENSP00000405724.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418791.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "ENST00000867426.1",
"protein_id": "ENSP00000537485.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867426.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "ENST00000867427.1",
"protein_id": "ENSP00000537486.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867427.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "ENST00000967984.1",
"protein_id": "ENSP00000638043.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967984.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "ENST00000967985.1",
"protein_id": "ENSP00000638044.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967985.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2004T>C",
"hgvs_p": "p.Thr668Thr",
"transcript": "ENST00000867424.1",
"protein_id": "ENSP00000537483.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 975,
"cds_start": 2004,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867424.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.1713T>C",
"hgvs_p": "p.Thr571Thr",
"transcript": "ENST00000867425.1",
"protein_id": "ENSP00000537484.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 878,
"cds_start": 1713,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867425.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2139T>C",
"hgvs_p": "p.Thr713Thr",
"transcript": "XM_005246328.5",
"protein_id": "XP_005246385.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2139,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246328.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2133T>C",
"hgvs_p": "p.Thr711Thr",
"transcript": "XM_047443489.1",
"protein_id": "XP_047299445.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2133,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443489.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "XM_005246329.5",
"protein_id": "XP_005246386.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246329.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "XM_005246330.4",
"protein_id": "XP_005246387.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246330.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "XM_011510706.4",
"protein_id": "XP_011509008.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510706.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr",
"transcript": "XM_017003430.2",
"protein_id": "XP_016858919.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 987,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003430.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.756T>C",
"hgvs_p": "p.Thr252Thr",
"transcript": "XM_011510710.3",
"protein_id": "XP_011509012.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 559,
"cds_start": 756,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510710.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Thr207Thr",
"transcript": "XM_017003431.2",
"protein_id": "XP_016858920.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 514,
"cds_start": 621,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003431.2"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2030-1618T>C",
"hgvs_p": null,
"transcript": "NM_001307976.2",
"protein_id": "NP_001294905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307976.2"
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"hgvs_c": "c.2129-1618T>C",
"hgvs_p": null,
"transcript": "XM_005246332.6",
"protein_id": "XP_005246389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": null,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246332.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANSL1L-AS1",
"gene_hgnc_id": 41139,
"hgvs_c": "n.775+29A>G",
"hgvs_p": null,
"transcript": "ENST00000452057.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000452057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KANSL1L-AS1",
"gene_hgnc_id": 41139,
"hgvs_c": "n.936+29A>G",
"hgvs_p": null,
"transcript": "ENST00000668130.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000668130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KANSL1L-AS1",
"gene_hgnc_id": 41139,
"hgvs_c": "n.118+29A>G",
"hgvs_p": null,
"transcript": "NR_110291.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110291.1"
}
],
"gene_symbol": "KANSL1L",
"gene_hgnc_id": 26310,
"dbsnp": "rs143376566",
"frequency_reference_population": 0.00031315009,
"hom_count_reference_population": 0,
"allele_count_reference_population": 482,
"gnomad_exomes_af": 0.000324463,
"gnomad_genomes_af": 0.000210125,
"gnomad_exomes_ac": 450,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.771,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152519.4",
"gene_symbol": "KANSL1L",
"hgnc_id": 26310,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2040T>C",
"hgvs_p": "p.Thr680Thr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000452057.1",
"gene_symbol": "KANSL1L-AS1",
"hgnc_id": 41139,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.775+29A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}