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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: 13-73764967-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=73764967&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 73764967,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000703967.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "ENST00000377669.7",
"protein_id": "ENSP00000366897.2",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 10832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "ENST00000703967.1",
"protein_id": "ENSP00000515592.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 11074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400136.1",
"protein_id": "NP_001387065.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 11074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400139.1",
"protein_id": "NP_001387068.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400141.1",
"protein_id": "NP_001387070.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 10757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_007249.5",
"protein_id": "NP_009180.3",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 402,
"cds_start": 840,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 10832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400146.1",
"protein_id": "NP_001387075.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 390,
"cds_start": 840,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 10917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Gly261Gly",
"transcript": "NM_001400147.1",
"protein_id": "NP_001387076.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 383,
"cds_start": 783,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 11010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Gly261Gly",
"transcript": "NM_001400148.1",
"protein_id": "NP_001387077.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 383,
"cds_start": 783,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 10768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.750C>A",
"hgvs_p": "p.Gly250Gly",
"transcript": "NM_001400150.1",
"protein_id": "NP_001387079.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 372,
"cds_start": 750,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 10984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.750C>A",
"hgvs_p": "p.Gly250Gly",
"transcript": "NM_001400151.1",
"protein_id": "NP_001387080.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 372,
"cds_start": 750,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 10742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400152.1",
"protein_id": "NP_001387081.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 309,
"cds_start": 840,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 10674,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "NM_001400153.1",
"protein_id": "NP_001387082.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 309,
"cds_start": 840,
"cds_end": null,
"cds_length": 930,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10533,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.879C>A",
"hgvs_p": "p.Gly293Gly",
"transcript": "XM_011534907.3",
"protein_id": "XP_011533209.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 415,
"cds_start": 879,
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"cdna_start": 956,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.879C>A",
"hgvs_p": "p.Gly293Gly",
"transcript": "XM_011534908.4",
"protein_id": "XP_011533210.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 403,
"cds_start": 879,
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"cds_length": 1212,
"cdna_start": 956,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "XM_011534909.3",
"protein_id": "XP_011533211.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.834C>A",
"hgvs_p": "p.Gly278Gly",
"transcript": "XM_011534910.3",
"protein_id": "XP_011533212.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
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"cds_start": 834,
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"cdna_start": 2484,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly",
"transcript": "XM_047430082.1",
"protein_id": "XP_047286038.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 390,
"cds_start": 840,
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"cdna_start": 1304,
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"biotype": null,
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},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Gly261Gly",
"transcript": "XM_011534911.3",
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},
{
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"consequences": [
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],
"exon_rank": 7,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.783C>A",
"hgvs_p": "p.Gly261Gly",
"transcript": "XM_047430083.1",
"protein_id": "XP_047286039.1",
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"aa_end": null,
"aa_length": 383,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
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"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
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"transcript": "XM_047430084.1",
"protein_id": "XP_047286040.1",
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"cds_start": 783,
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"cdna_start": 1086,
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"cdna_length": 10856,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"hgvs_c": "c.806+48185C>A",
"hgvs_p": null,
"transcript": "NM_001400149.1",
"protein_id": "NP_001387078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
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"cds_length": 1146,
"cdna_start": null,
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"cdna_length": 11011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLF12",
"gene_hgnc_id": 6346,
"dbsnp": "rs3764134",
"frequency_reference_population": 0.52963114,
"hom_count_reference_population": 225591,
"allele_count_reference_population": 821120,
"gnomad_exomes_af": 0.534946,
"gnomad_genomes_af": 0.480695,
"gnomad_exomes_ac": 748115,
"gnomad_genomes_ac": 73005,
"gnomad_exomes_homalt": 207313,
"gnomad_genomes_homalt": 18278,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.333,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000703967.1",
"gene_symbol": "KLF12",
"hgnc_id": 6346,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.840C>A",
"hgvs_p": "p.Gly280Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}