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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: 1-235437471-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235437471&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235437471,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000642610.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "NM_003193.5",
"protein_id": "NP_003184.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "ENST00000642610.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000642610.2",
"protein_id": "ENSP00000494796.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": "NM_003193.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000647186.1",
"protein_id": "ENSP00000494775.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1848,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.924T>A",
"hgvs_p": "p.Cys308*",
"transcript": "ENST00000366601.8",
"protein_id": "ENSP00000355560.4",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 464,
"cds_start": 924,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1266T>A",
"hgvs_p": "p.Cys422*",
"transcript": "NM_001287801.2",
"protein_id": "NP_001274730.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 578,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 5527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1266T>A",
"hgvs_p": "p.Cys422*",
"transcript": "ENST00000543662.4",
"protein_id": "ENSP00000439170.1",
"transcript_support_level": 2,
"aa_start": 422,
"aa_end": null,
"aa_length": 578,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000644217.1",
"protein_id": "ENSP00000494646.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 549,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "NM_001079515.3",
"protein_id": "NP_001072983.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 5422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000406207.5",
"protein_id": "ENSP00000384571.1",
"transcript_support_level": 5,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000645205.1",
"protein_id": "ENSP00000495823.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000645351.1",
"protein_id": "ENSP00000494319.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000645655.1",
"protein_id": "ENSP00000495202.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000646624.1",
"protein_id": "ENSP00000494575.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 527,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*",
"transcript": "ENST00000645899.1",
"protein_id": "ENSP00000496773.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 520,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.927T>A",
"hgvs_p": "p.Cys309*",
"transcript": "ENST00000644578.1",
"protein_id": "ENSP00000495953.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 487,
"cds_start": 927,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Cys258*",
"transcript": "NM_001287802.2",
"protein_id": "NP_001274731.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 414,
"cds_start": 774,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Cys258*",
"transcript": "ENST00000647428.1",
"protein_id": "ENSP00000495630.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 414,
"cds_start": 774,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"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": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "c.774T>A",
"hgvs_p": "p.Cys258*",
"transcript": "ENST00000651186.1",
"protein_id": "ENSP00000498645.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 414,
"cds_start": 774,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1935,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.1837T>A",
"hgvs_p": null,
"transcript": "ENST00000472011.6",
"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": 2478,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.*810T>A",
"hgvs_p": null,
"transcript": "ENST00000642339.1",
"protein_id": "ENSP00000495425.1",
"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": 1659,
"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": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "n.*1547T>A",
"hgvs_p": null,
"transcript": "ENST00000642431.1",
"protein_id": "ENSP00000494990.1",
"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": 2328,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCE",
"gene_hgnc_id": 11582,
"hgvs_c": "n.*1011T>A",
"hgvs_p": null,
"transcript": "ENST00000642463.1",
"protein_id": "ENSP00000495007.1",
"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": 2126,
"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": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285053",
"gene_hgnc_id": null,
"hgvs_c": "n.*887T>A",
"hgvs_p": null,
"transcript": "ENST00000642503.1",
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"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4699999988079071,
"computational_prediction_selected": "Pathogenic",
"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": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.401,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000642610.2",
"gene_symbol": "TBCE",
"hgnc_id": 11582,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647186.1",
"gene_symbol": "ENSG00000285053",
"hgnc_id": null,
"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.1113T>A",
"hgvs_p": "p.Cys371*"
}
],
"clinvar_disease": "Hypoparathyroidism-retardation-dysmorphism syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypoparathyroidism-retardation-dysmorphism syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}