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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-154770792-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154770792&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154770792,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369550.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "NM_001363.5",
"protein_id": "NP_001354.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 514,
"cds_start": 949,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": "ENST00000369550.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "ENST00000369550.10",
"protein_id": "ENSP00000358563.5",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 514,
"cds_start": 949,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": "NM_001363.5",
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1173C>G",
"hgvs_p": null,
"transcript": "ENST00000620277.4",
"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": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "NM_001142463.3",
"protein_id": "NP_001135935.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 509,
"cds_start": 949,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "ENST00000696575.1",
"protein_id": "ENSP00000512730.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 509,
"cds_start": 949,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "ENST00000696628.1",
"protein_id": "ENSP00000512765.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 508,
"cds_start": 949,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "ENST00000696577.1",
"protein_id": "ENSP00000512731.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 504,
"cds_start": 949,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.910C>G",
"hgvs_p": "p.Leu304Val",
"transcript": "ENST00000696583.1",
"protein_id": "ENSP00000512736.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 501,
"cds_start": 910,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.862C>G",
"hgvs_p": "p.Leu288Val",
"transcript": "ENST00000696580.1",
"protein_id": "ENSP00000512733.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 485,
"cds_start": 862,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Leu277Val",
"transcript": "ENST00000696587.1",
"protein_id": "ENSP00000512737.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 474,
"cds_start": 829,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.949C>G",
"hgvs_p": "p.Leu317Val",
"transcript": "NM_001288747.2",
"protein_id": "NP_001275676.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 420,
"cds_start": 949,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.340C>G",
"hgvs_p": "p.Leu114Val",
"transcript": "ENST00000696588.1",
"protein_id": "ENSP00000513251.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 311,
"cds_start": 340,
"cds_end": null,
"cds_length": 936,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 3463,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.207C>G",
"hgvs_p": null,
"transcript": "ENST00000412124.5",
"protein_id": null,
"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": 670,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.829C>G",
"hgvs_p": null,
"transcript": "ENST00000413910.6",
"protein_id": "ENSP00000400542.2",
"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": 2516,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*332C>G",
"hgvs_p": null,
"transcript": "ENST00000426673.6",
"protein_id": "ENSP00000407253.3",
"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": 2571,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "ENST00000475966.1",
"protein_id": null,
"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": 902,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.734C>G",
"hgvs_p": null,
"transcript": "ENST00000484317.6",
"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": 2617,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1051C>G",
"hgvs_p": null,
"transcript": "ENST00000696579.1",
"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": 3357,
"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": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*923C>G",
"hgvs_p": null,
"transcript": "ENST00000696581.1",
"protein_id": "ENSP00000512734.1",
"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": 2553,
"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": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.*155C>G",
"hgvs_p": null,
"transcript": "ENST00000696582.1",
"protein_id": "ENSP00000512735.1",
"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": 2292,
"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": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1473C>G",
"hgvs_p": null,
"transcript": "ENST00000696584.1",
"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": 2363,
"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": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1592C>G",
"hgvs_p": null,
"transcript": "ENST00000696585.1",
"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": 2482,
"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": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.1366C>G",
"hgvs_p": null,
"transcript": "ENST00000696586.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"PP3"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": " X-linked,Dyskeratosis congenita",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Dyskeratosis congenita, X-linked",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}