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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: 14-56621697-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=56621697&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 56621697,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000261556.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Gln465*",
"transcript": "NM_017799.4",
"protein_id": "NP_060269.3",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 707,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": "ENST00000261556.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Gln465*",
"transcript": "ENST00000261556.11",
"protein_id": "ENSP00000261556.6",
"transcript_support_level": 2,
"aa_start": 465,
"aa_end": null,
"aa_length": 707,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": "NM_017799.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"transcript": "ENST00000539559.6",
"protein_id": "ENSP00000442602.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.*303C>T",
"hgvs_p": null,
"transcript": "ENST00000539559.6",
"protein_id": "ENSP00000442602.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1226+2934C>T",
"hgvs_p": null,
"transcript": "ENST00000538838.5",
"protein_id": "ENSP00000441934.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.758+2934C>T",
"hgvs_p": null,
"transcript": "ENST00000556422.5",
"protein_id": "ENSP00000450988.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Gln465*",
"transcript": "XM_011536851.3",
"protein_id": "XP_011535153.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 636,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Gln348*",
"transcript": "XM_011536852.2",
"protein_id": "XP_011535154.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 590,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Gln309*",
"transcript": "XM_047431493.1",
"protein_id": "XP_047287449.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 551,
"cds_start": 925,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 4081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.Gln309*",
"transcript": "XM_047431494.1",
"protein_id": "XP_047287450.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 551,
"cds_start": 925,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Gln185*",
"transcript": "XM_047431496.1",
"protein_id": "XP_047287452.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 427,
"cds_start": 553,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Gln118*",
"transcript": "XM_047431498.1",
"protein_id": "XP_047287454.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 360,
"cds_start": 352,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 3211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.1510C>T",
"hgvs_p": null,
"transcript": "XR_007064017.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.1510C>T",
"hgvs_p": null,
"transcript": "XR_007064018.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.*700+2934C>T",
"hgvs_p": null,
"transcript": "ENST00000555497.5",
"protein_id": "ENSP00000452065.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.*136+2934C>T",
"hgvs_p": null,
"transcript": "ENST00000555905.5",
"protein_id": "ENSP00000452441.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.862+2934C>T",
"hgvs_p": null,
"transcript": "ENST00000556648.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.1226+2934C>T",
"hgvs_p": null,
"transcript": "XM_047431497.1",
"protein_id": "XP_047287453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 409,
"cds_start": -4,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "c.*138C>T",
"hgvs_p": null,
"transcript": "XM_047431495.1",
"protein_id": "XP_047287451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"hgvs_c": "n.*79C>T",
"hgvs_p": null,
"transcript": "XR_007064019.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMEM260",
"gene_hgnc_id": 20185,
"dbsnp": "rs201956469",
"frequency_reference_population": 0.000041747255,
"hom_count_reference_population": 0,
"allele_count_reference_population": 67,
"gnomad_exomes_af": 0.0000406087,
"gnomad_genomes_af": 0.0000526295,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"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": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.933,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261556.11",
"gene_symbol": "TMEM260",
"hgnc_id": 20185,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Gln465*"
}
],
"clinvar_disease": "Structural heart defects and renal anomalies syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Structural heart defects and renal anomalies syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}