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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-154560412-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154560412&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154560412,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001099856.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "NM_001099857.5",
"protein_id": "NP_001093327.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "ENST00000594239.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099857.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000594239.6",
"protein_id": "ENSP00000471166.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": "NM_001099857.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594239.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "ENST00000618670.4",
"protein_id": "ENSP00000483825.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 487,
"cds_start": 728,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618670.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000611071.4",
"protein_id": "ENSP00000479662.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611071.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*516G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000612051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.*516G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1972,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000612051.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "n.200-2398G>C",
"hgvs_p": null,
"transcript": "ENST00000617838.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 285,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000617838.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.728G>C",
"hgvs_p": "p.Arg243Pro",
"transcript": "NM_001099856.6",
"protein_id": "NP_001093326.2",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 487,
"cds_start": 728,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099856.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.581G>C",
"hgvs_p": "p.Arg194Pro",
"transcript": "ENST00000692948.1",
"protein_id": "ENSP00000508773.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 438,
"cds_start": 581,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692948.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000907136.1",
"protein_id": "ENSP00000577195.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 433,
"cds_start": 524,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907136.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000907148.1",
"protein_id": "ENSP00000577207.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 433,
"cds_start": 524,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907148.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000968077.1",
"protein_id": "ENSP00000638136.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 433,
"cds_start": 524,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968077.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.521G>C",
"hgvs_p": "p.Arg174Pro",
"transcript": "ENST00000907152.1",
"protein_id": "ENSP00000577211.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 432,
"cds_start": 521,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907152.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "NM_001321396.3",
"protein_id": "NP_001308325.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321396.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "NM_001377312.1",
"protein_id": "NP_001364241.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377312.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "NM_003639.4",
"protein_id": "NP_003630.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003639.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000422680.6",
"protein_id": "ENSP00000390368.3",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422680.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000440286.6",
"protein_id": "ENSP00000394934.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440286.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000445622.6",
"protein_id": "ENSP00000395205.2",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445622.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000907133.1",
"protein_id": "ENSP00000577192.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907133.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000907135.1",
"protein_id": "ENSP00000577194.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907135.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IKBKG",
"gene_hgnc_id": 5961,
"hgvs_c": "c.524G>C",
"hgvs_p": "p.Arg175Pro",
"transcript": "ENST00000907137.1",
"protein_id": "ENSP00000577196.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 419,
"cds_start": 524,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907137.1"
},
{
"aa_ref": "R",
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}