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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: 19-40356965-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40356965&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40356965,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000409735.9",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-279+8197G>T",
"hgvs_p": null,
"transcript": "NM_012268.4",
"protein_id": "NP_036400.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "ENST00000409735.9",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-279+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000409735.9",
"protein_id": "ENSP00000386938.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": "NM_012268.4",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-99+8241G>T",
"hgvs_p": null,
"transcript": "ENST00000356508.9",
"protein_id": "ENSP00000348901.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279759",
"gene_hgnc_id": null,
"hgvs_c": "n.1124G>T",
"hgvs_p": null,
"transcript": "ENST00000622968.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 4765,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-99+8241G>T",
"hgvs_p": null,
"transcript": "NM_001031696.4",
"protein_id": "NP_001026866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1913,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-101+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000409419.5",
"protein_id": "ENSP00000386293.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1966,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-314+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000409587.5",
"protein_id": "ENSP00000387050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2180,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-66+8241G>T",
"hgvs_p": null,
"transcript": "ENST00000700616.1",
"protein_id": "ENSP00000515107.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5121,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-66+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000700619.1",
"protein_id": "ENSP00000515110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2051,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-66+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000700620.1",
"protein_id": "ENSP00000515111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1806,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-99+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000700621.1",
"protein_id": "ENSP00000515112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 490,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5075,
"mane_select": null,
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"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-13+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000700623.1",
"protein_id": "ENSP00000515113.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-158-5985G>T",
"hgvs_p": null,
"transcript": "ENST00000700625.1",
"protein_id": "ENSP00000515115.1",
"transcript_support_level": null,
"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": 13,
"intron_rank": 1,
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"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-99+3484G>T",
"hgvs_p": null,
"transcript": "ENST00000700626.1",
"protein_id": "ENSP00000515116.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PLD3",
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"hgvs_c": "c.-66+2297G>T",
"hgvs_p": null,
"transcript": "ENST00000700628.1",
"protein_id": "ENSP00000515117.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 490,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-40+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000700624.1",
"protein_id": "ENSP00000515114.2",
"transcript_support_level": null,
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-99+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000594908.5",
"protein_id": "ENSP00000471838.1",
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"aa_length": 212,
"cds_start": -4,
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"mane_select": 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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-347+8241G>T",
"hgvs_p": null,
"transcript": "ENST00000392032.6",
"protein_id": "ENSP00000375886.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-66+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000602131.5",
"protein_id": "ENSP00000468999.1",
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},
{
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],
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"gene_symbol": "PLD3",
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"hgvs_c": "c.-134+8197G>T",
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"transcript": "ENST00000596682.5",
"protein_id": "ENSP00000468898.1",
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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": "PLD3",
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"hgvs_c": "c.-66+8241G>T",
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"transcript": "ENST00000599685.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-335+8197G>T",
"hgvs_p": null,
"transcript": "ENST00000600948.5",
"protein_id": "ENSP00000472509.1",
"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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"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLD3",
"gene_hgnc_id": 17158,
"hgvs_c": "c.-444+8241G>T",
"hgvs_p": null,
"transcript": "ENST00000598962.5",
"protein_id": "ENSP00000470603.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 580,
"mane_select": null,
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"feature": null
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{
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}
],
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}