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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: 10-80088158-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80088158&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80088158,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000372281.8",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.252-2639G>C",
"hgvs_p": null,
"transcript": "NM_025125.4",
"protein_id": "NP_079401.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": "ENST00000372281.8",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.252-2639G>C",
"hgvs_p": null,
"transcript": "ENST00000372281.8",
"protein_id": "ENSP00000361355.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": "NM_025125.4",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.312-2639G>C",
"hgvs_p": null,
"transcript": "ENST00000372273.7",
"protein_id": "ENSP00000361347.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": -4,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.*41-2639G>C",
"hgvs_p": null,
"transcript": "ENST00000613758.4",
"protein_id": "ENSP00000482766.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 101,
"cds_start": -4,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "n.295-2639G>C",
"hgvs_p": null,
"transcript": "ENST00000463029.5",
"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": 847,
"mane_select": null,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "n.203-2639G>C",
"hgvs_p": null,
"transcript": "ENST00000467529.5",
"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": 1963,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.324-2639G>C",
"hgvs_p": null,
"transcript": "NM_001270367.1",
"protein_id": "NP_001257296.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2081,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.*10-2639G>C",
"hgvs_p": null,
"transcript": "NM_001270368.1",
"protein_id": "NP_001257297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2094,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.324-2222G>C",
"hgvs_p": null,
"transcript": "NM_001270369.1",
"protein_id": "NP_001257298.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2133,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.279+1900G>C",
"hgvs_p": null,
"transcript": "NM_001270370.2",
"protein_id": "NP_001257299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": -4,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "c.279+1900G>C",
"hgvs_p": null,
"transcript": "ENST00000372274.5",
"protein_id": "ENSP00000361348.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "TMEM254",
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"hgvs_c": "c.279+1900G>C",
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"transcript": "ENST00000372277.7",
"protein_id": "ENSP00000361351.3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM254",
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"hgvs_c": "c.*41-2639G>C",
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"transcript": "NM_001270371.2",
"protein_id": "NP_001257300.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM254",
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"hgvs_c": "c.183-2639G>C",
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"transcript": "ENST00000450179.1",
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},
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],
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"transcript": "NM_001270372.2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM254",
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"hgvs_c": "c.252-2222G>C",
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"transcript": "NM_001270373.2",
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},
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],
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"transcript": "ENST00000372275.5",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "TMEM254",
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"hgvs_c": "c.*41-2639G>C",
"hgvs_p": null,
"transcript": "NM_001270374.2",
"protein_id": "NP_001257303.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "TMEM254",
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"hgvs_c": "n.319-2639G>C",
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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": "TMEM254",
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"hgvs_c": "n.323-2639G>C",
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"transcript": "NR_072984.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TMEM254",
"gene_hgnc_id": 25804,
"hgvs_c": "n.330-2639G>C",
"hgvs_p": null,
"transcript": "NR_072985.1",
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},
{
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"strand": true,
"consequences": [
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],
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}