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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: 4-119539151-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=119539151&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 119539151,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000354960.8",
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1573-132A>C",
"hgvs_p": null,
"transcript": "NM_001083.4",
"protein_id": "NP_001074.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": "ENST00000354960.8",
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1573-132A>C",
"hgvs_p": null,
"transcript": "ENST00000354960.8",
"protein_id": "ENSP00000347046.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6959,
"mane_select": "NM_001083.4",
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1447-132A>C",
"hgvs_p": null,
"transcript": "ENST00000264805.9",
"protein_id": "ENSP00000264805.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.250+10362T>G",
"hgvs_p": null,
"transcript": "ENST00000500559.6",
"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": 453,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1447-132A>C",
"hgvs_p": null,
"transcript": "NM_033430.3",
"protein_id": "NP_236914.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7262,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1417-132A>C",
"hgvs_p": null,
"transcript": "NM_033437.4",
"protein_id": "NP_246273.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6720,
"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": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "c.1417-132A>C",
"hgvs_p": null,
"transcript": "ENST00000394439.5",
"protein_id": "ENSP00000377957.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 823,
"cds_start": -4,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6770,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.687-4602T>G",
"hgvs_p": null,
"transcript": "ENST00000498873.5",
"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": 981,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "n.250-132A>C",
"hgvs_p": null,
"transcript": "ENST00000502912.1",
"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": 371,
"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": "PDE5A",
"gene_hgnc_id": 8784,
"hgvs_c": "n.381-132A>C",
"hgvs_p": null,
"transcript": "ENST00000512739.5",
"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,
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"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1276-4602T>G",
"hgvs_p": null,
"transcript": "ENST00000685974.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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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": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1340+10362T>G",
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"transcript": "ENST00000688315.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
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"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1262-4602T>G",
"hgvs_p": null,
"transcript": "ENST00000692409.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
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],
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"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1306+10362T>G",
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"transcript": "ENST00000692945.1",
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},
{
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],
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"gene_symbol": "ENSG00000291203",
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"transcript": "ENST00000701107.2",
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 11,
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"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1291-4602T>G",
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"transcript": "ENST00000701246.1",
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},
{
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],
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"gene_symbol": "ENSG00000291203",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1379+10362T>G",
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"transcript": "ENST00000776106.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1195-4602T>G",
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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": "ENSG00000291203",
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"hgvs_c": "n.1233-4602T>G",
"hgvs_p": null,
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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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291203",
"gene_hgnc_id": null,
"hgvs_c": "n.1190-12737T>G",
"hgvs_p": null,
"transcript": "ENST00000776111.1",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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{
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}
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}