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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: 13-113792362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113792362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113792362,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_182614.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "NM_182614.4",
"protein_id": "NP_872420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375353.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182614.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000375353.5",
"protein_id": "ENSP00000364502.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182614.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375353.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870223.1",
"protein_id": "ENSP00000540282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870223.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000952362.1",
"protein_id": "ENSP00000622421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000952361.1",
"protein_id": "ENSP00000622420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870220.1",
"protein_id": "ENSP00000540279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870220.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-6977C>T",
"hgvs_p": null,
"transcript": "ENST00000870227.1",
"protein_id": "ENSP00000540286.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000926112.1",
"protein_id": "ENSP00000596171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000952363.1",
"protein_id": "ENSP00000622422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 341,
"cds_start": null,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870228.1",
"protein_id": "ENSP00000540287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": null,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-6977C>T",
"hgvs_p": null,
"transcript": "ENST00000952365.1",
"protein_id": "ENSP00000622424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
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"cds_length": 984,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952365.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000952364.1",
"protein_id": "ENSP00000622423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
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"cds_length": 930,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952364.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.190-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870225.1",
"protein_id": "ENSP00000540284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
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"cds_length": 918,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870225.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-6977C>T",
"hgvs_p": null,
"transcript": "ENST00000870222.1",
"protein_id": "ENSP00000540281.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000870222.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870226.1",
"protein_id": "ENSP00000540285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
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"cds_length": 882,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870226.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "NM_001348663.2",
"protein_id": "NP_001335592.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001348663.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000870221.1",
"protein_id": "ENSP00000540280.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 278,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870221.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.190-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000926111.1",
"protein_id": "ENSP00000596170.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000926111.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000488362.5",
"protein_id": "ENSP00000479391.1",
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"biotype": "protein_coding",
"feature": "ENST00000488362.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "c.253-19374C>T",
"hgvs_p": null,
"transcript": "ENST00000870224.1",
"protein_id": "ENSP00000540283.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000870224.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"hgvs_c": "n.277-2786C>T",
"hgvs_p": null,
"transcript": "ENST00000375348.3",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000375348.3"
}
],
"gene_symbol": "TMEM255B",
"gene_hgnc_id": 28297,
"dbsnp": "rs7491764",
"frequency_reference_population": 0.000026300562,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000263006,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9900000095367432,
"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": -0.99,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.799,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_182614.4",
"gene_symbol": "TMEM255B",
"hgnc_id": 28297,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.253-2786C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}