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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: 19-52004866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=52004866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 52004866,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000598071.6",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "NM_001199324.2",
"protein_id": "NP_001186253.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000598071.6",
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "ENST00000598071.6",
"protein_id": "ENSP00000471041.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_001199324.2",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "ENST00000594083.5",
"protein_id": "ENSP00000471549.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4020,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.-189-966G>A",
"hgvs_p": null,
"transcript": "ENST00000599177.5",
"protein_id": "ENSP00000470475.1",
"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": 4122,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.31-2585G>A",
"hgvs_p": null,
"transcript": "NM_001321323.2",
"protein_id": "NP_001308252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 747,
"cds_start": -4,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3833,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "NM_001321319.2",
"protein_id": "NP_001308248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4037,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-182-973G>A",
"hgvs_p": null,
"transcript": "NM_001321321.2",
"protein_id": "NP_001308250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": -4,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4030,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.3+2427G>A",
"hgvs_p": null,
"transcript": "NM_001321318.2",
"protein_id": "NP_001308247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3871,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "NM_001321322.2",
"protein_id": "NP_001308251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 738,
"cds_start": -4,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.31-2585G>A",
"hgvs_p": null,
"transcript": "NM_001321317.2",
"protein_id": "NP_001308246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"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": 4,
"intron_rank": 1,
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"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.31-2585G>A",
"hgvs_p": null,
"transcript": "ENST00000391795.7",
"protein_id": "ENSP00000375672.3",
"transcript_support_level": 2,
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},
{
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"consequences": [
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],
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"gene_symbol": "ZNF615",
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"hgvs_c": "c.-189-966G>A",
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"transcript": "NM_001321320.2",
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},
{
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],
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"exon_count": 6,
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"gene_symbol": "ZNF615",
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"hgvs_c": "c.-189-966G>A",
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"transcript": "NM_198480.4",
"protein_id": "NP_940882.3",
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},
{
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],
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"gene_symbol": "ZNF615",
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"hgvs_c": "c.-189-966G>A",
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"transcript": "ENST00000376716.9",
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},
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],
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"transcript": "ENST00000602063.5",
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},
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],
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"gene_symbol": "ZNF615",
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],
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"gene_symbol": "ZNF615",
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"hgvs_c": "c.-189-966G>A",
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"transcript": "ENST00000597747.5",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-189-966G>A",
"hgvs_p": null,
"transcript": "ENST00000601178.5",
"protein_id": "ENSP00000471608.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ZNF615",
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"hgvs_c": "c.-496-143G>A",
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"transcript": "ENST00000599631.5",
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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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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.31-2585G>A",
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"transcript": "ENST00000599115.5",
"protein_id": "ENSP00000470880.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.-496-143G>A",
"hgvs_p": null,
"transcript": "XM_047438644.1",
"protein_id": "XP_047294600.1",
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{
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"clinvar_disease": "",
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}
],
"message": null
}