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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: X-154552186-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154552186&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154552186,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000594239.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001099857.5",
"protein_id": "NP_001093327.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "ENST00000594239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000594239.6",
"protein_id": "ENSP00000471166.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "NM_001099857.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130*",
"transcript": "ENST00000618670.4",
"protein_id": "ENSP00000483825.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 487,
"cds_start": 388,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000611071.4",
"protein_id": "ENSP00000479662.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2103,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000612051.1",
"protein_id": "ENSP00000480431.1",
"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": 1972,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000617838.1",
"protein_id": null,
"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": 285,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*176C>T",
"hgvs_p": null,
"transcript": "ENST00000612051.1",
"protein_id": "ENSP00000480431.1",
"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": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130*",
"transcript": "NM_001099856.6",
"protein_id": "NP_001093326.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 487,
"cds_start": 388,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000692948.1",
"protein_id": "ENSP00000508773.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 438,
"cds_start": 184,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001321396.3",
"protein_id": "NP_001308325.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001377312.1",
"protein_id": "NP_001364241.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_003639.4",
"protein_id": "NP_003630.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000422680.6",
"protein_id": "ENSP00000390368.3",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000440286.6",
"protein_id": "ENSP00000394934.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000445622.6",
"protein_id": "ENSP00000395205.2",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 419,
"cds_start": 184,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001321397.3",
"protein_id": "NP_001308326.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 418,
"cds_start": 184,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001377313.1",
"protein_id": "NP_001364242.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 418,
"cds_start": 184,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000617207.4",
"protein_id": "ENSP00000484023.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 418,
"cds_start": 184,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000619941.4",
"protein_id": "ENSP00000478979.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 412,
"cds_start": 184,
"cds_end": null,
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"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000615874.4",
"protein_id": "ENSP00000483381.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 411,
"cds_start": 184,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000413620.6",
"protein_id": "ENSP00000398579.2",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 407,
"cds_start": 148,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "ENST00000689906.1",
"protein_id": "ENSP00000508630.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 368,
"cds_start": 184,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62*",
"transcript": "NM_001377314.1",
"protein_id": "NP_001364243.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 367,
"cds_start": 184,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 325,
"cdna_end": null,
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],
"clinvar_disease": "Incontinentia pigmenti syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Incontinentia pigmenti syndrome|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}