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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-154762991-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154762991&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154762991,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001363.5",
"consequences": [
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "NM_001363.5",
"protein_id": "NP_001354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": "ENST00000369550.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000369550.10",
"protein_id": "ENSP00000358563.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "n.240+10G>A",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "NM_001142463.3",
"protein_id": "NP_001135935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2454,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696575.1",
"protein_id": "ENSP00000512730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696628.1",
"protein_id": "ENSP00000512765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2412,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696577.1",
"protein_id": "ENSP00000512731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
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"cdna_length": 2867,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696583.1",
"protein_id": "ENSP00000512736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2384,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696580.1",
"protein_id": "ENSP00000512733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": -4,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
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"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696587.1",
"protein_id": "ENSP00000512737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "DKC1",
"gene_hgnc_id": 2890,
"hgvs_c": "c.16+10G>A",
"hgvs_p": null,
"transcript": "NM_001288747.2",
"protein_id": "NP_001275676.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "DKC1",
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"hgvs_c": "n.16+10G>A",
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"transcript": "ENST00000413910.6",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "DKC1",
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"hgvs_c": "n.16+10G>A",
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"transcript": "ENST00000426673.6",
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},
{
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"strand": true,
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],
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"transcript": "ENST00000473552.1",
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DKC1",
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},
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],
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},
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],
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"gene_symbol": "DKC1",
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"hgvs_c": "n.118+10G>A",
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"transcript": "ENST00000696579.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "DKC1",
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"hgvs_c": "n.16+10G>A",
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"transcript": "ENST00000696581.1",
"protein_id": "ENSP00000512734.1",
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],
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},
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],
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},
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],
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"gene_symbol": "DKC1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 15,
"intron_rank": 1,
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"gene_symbol": "DKC1",
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"hgvs_c": "n.63+10G>A",
"hgvs_p": null,
"transcript": "ENST00000696586.1",
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},
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"consequences": [
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],
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{
"score": -2,
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}