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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: 14-88642434-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88642434&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 88642434,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000554922.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4237+459C>T",
"hgvs_p": null,
"transcript": "NM_183387.3",
"protein_id": "NP_899243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": -4,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9771,
"mane_select": "ENST00000554922.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4237+459C>T",
"hgvs_p": null,
"transcript": "ENST00000554922.6",
"protein_id": "ENSP00000451998.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1977,
"cds_start": -4,
"cds_end": null,
"cds_length": 5934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9771,
"mane_select": "NM_183387.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4228+459C>T",
"hgvs_p": null,
"transcript": "NM_001385116.1",
"protein_id": "NP_001372045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1974,
"cds_start": -4,
"cds_end": null,
"cds_length": 5925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4213+459C>T",
"hgvs_p": null,
"transcript": "NM_001411033.1",
"protein_id": "NP_001397962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1969,
"cds_start": -4,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4213+459C>T",
"hgvs_p": null,
"transcript": "ENST00000380664.9",
"protein_id": "ENSP00000370039.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1969,
"cds_start": -4,
"cds_end": null,
"cds_length": 5910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "n.*2384+459C>T",
"hgvs_p": null,
"transcript": "ENST00000553281.5",
"protein_id": "ENSP00000452360.1",
"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": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "n.*773+459C>T",
"hgvs_p": null,
"transcript": "ENST00000553526.5",
"protein_id": "ENSP00000450965.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "n.435+459C>T",
"hgvs_p": null,
"transcript": "ENST00000553962.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4237+459C>T",
"hgvs_p": null,
"transcript": "XM_011536528.4",
"protein_id": "XP_011534830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2002,
"cds_start": -4,
"cds_end": null,
"cds_length": 6009,
"cdna_start": null,
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"cdna_length": 8115,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 41,
"intron_rank": 30,
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"gene_symbol": "EML5",
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"hgvs_c": "c.4228+459C>T",
"hgvs_p": null,
"transcript": "XM_011536530.4",
"protein_id": "XP_011534832.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 31,
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"gene_symbol": "EML5",
"gene_hgnc_id": 18197,
"hgvs_c": "c.4237+459C>T",
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"transcript": "XM_017021062.3",
"protein_id": "XP_016876551.1",
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},
{
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"consequences": [
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],
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},
{
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],
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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": "EML5",
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"hgvs_c": "c.4099+459C>T",
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"transcript": "XM_011536533.4",
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],
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"gene_symbol": "EML5",
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"protein_id": "XP_011534836.1",
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},
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],
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"gene_symbol": "EML5",
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}