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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: 12-109573660-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109573660&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109573660,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000539335.5",
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-15+89G>A",
"hgvs_p": null,
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2155,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-6+89G>A",
"hgvs_p": null,
"transcript": "ENST00000539335.5",
"protein_id": "ENSP00000440379.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 834,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.231+89G>A",
"hgvs_p": null,
"transcript": "ENST00000535044.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 548,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.286+89G>A",
"hgvs_p": null,
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3053,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-15+89G>A",
"hgvs_p": null,
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.-180C>T",
"hgvs_p": null,
"transcript": "NM_052845.4",
"protein_id": "NP_443077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": "ENST00000545712.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000545712.7",
"protein_id": "ENSP00000445920.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": "NM_052845.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-219G>A",
"hgvs_p": null,
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 396,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "MVK",
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"hgvs_c": "c.-384G>A",
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"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "NM_001414513.1",
"protein_id": "NP_001401442.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MVK",
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"hgvs_c": "c.-228G>A",
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"transcript": "NM_001301182.2",
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},
{
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],
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"transcript": "ENST00000392727.7",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MVK",
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"hgvs_c": "c.-228G>A",
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"transcript": "NM_001414514.1",
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},
{
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],
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"gene_symbol": "MVK",
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"hgvs_c": "c.-718G>A",
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"transcript": "NM_001414515.1",
"protein_id": "NP_001401444.1",
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},
{
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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": null,
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"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "c.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000540016.5",
"protein_id": "ENSP00000474582.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.-305G>A",
"hgvs_p": null,
"transcript": "ENST00000539696.6",
"protein_id": "ENSP00000439134.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "MMAB",
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"hgvs_c": "c.-180C>T",
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"transcript": "ENST00000537236.2",
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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": 6,
"intron_rank": null,
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"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000420167.6",
"protein_id": "ENSP00000416136.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "n.-228G>A",
"hgvs_p": null,
"transcript": "ENST00000447878.6",
"protein_id": "ENSP00000415555.2",
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"aa_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": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMAB",
"gene_hgnc_id": 19331,
"hgvs_c": "n.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000503497.7",
"protein_id": "ENSP00000474881.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": false,
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{
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"pathogenic_score": 0,
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"BS1",
"BS2"
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{
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"clinvar_disease": " disseminated superficial actinic type,Hyperimmunoglobulin D with periodic fever,Mevalonic aciduria,Porokeratosis 3,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided|Porokeratosis 3, disseminated superficial actinic type;Mevalonic aciduria;Hyperimmunoglobulin D with periodic fever",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}