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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: 3-185044536-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185044536&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 185044536,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000625842.3",
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "NM_001009921.3",
"protein_id": "NP_001009921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": "ENST00000625842.3",
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "ENST00000625842.3",
"protein_id": "ENSP00000487164.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5014,
"mane_select": "NM_001009921.3",
"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": 47,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "ENST00000287546.8",
"protein_id": "ENSP00000287546.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5047,
"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": 45,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.3781-3943T>A",
"hgvs_p": null,
"transcript": "ENST00000446204.6",
"protein_id": "ENSP00000405483.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": -4,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4721,
"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": 27,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "n.2464-3943T>A",
"hgvs_p": null,
"transcript": "ENST00000492449.5",
"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": 2980,
"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": 49,
"intron_rank": 47,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "NM_001349292.2",
"protein_id": "NP_001336221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5100,
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "NM_001349293.2",
"protein_id": "NP_001336222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5012,
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "NM_001349294.2",
"protein_id": "NP_001336223.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5075,
"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": 48,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4057-3943T>A",
"hgvs_p": null,
"transcript": "NM_001349295.1",
"protein_id": "NP_001336224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1428,
"cds_start": -4,
"cds_end": null,
"cds_length": 4287,
"cdna_start": null,
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"cdna_length": 5247,
"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,
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"exon_count": 47,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4051-3943T>A",
"hgvs_p": null,
"transcript": "NM_015303.4",
"protein_id": "NP_056118.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 45,
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"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.4051-3943T>A",
"hgvs_p": null,
"transcript": "ENST00000436792.6",
"protein_id": "ENSP00000404704.2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "VPS8",
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"transcript": "NM_001349296.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.2338-3943T>A",
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"transcript": "NM_001349297.2",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.2257-3943T>A",
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"transcript": "NM_001349298.2",
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},
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],
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"gene_symbol": "VPS8",
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},
{
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.4057-3943T>A",
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},
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.4057-3943T>A",
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"transcript": "XM_047447821.1",
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},
{
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.4057-3943T>A",
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"transcript": "XM_047447822.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "VPS8",
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"hgvs_c": "c.4051-3943T>A",
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "VPS8",
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"hgvs_c": "c.4051-3943T>A",
"hgvs_p": null,
"transcript": "XM_047447825.1",
"protein_id": "XP_047303781.1",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "VPS8",
"gene_hgnc_id": 29122,
"hgvs_c": "c.3661-3943T>A",
"hgvs_p": null,
"transcript": "XM_047447826.1",
"protein_id": "XP_047303782.1",
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],
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"splice_prediction_selected": "Benign",
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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": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}