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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: 4-858696-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=858696&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 858696,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_005255.4",
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3283+910A>C",
"hgvs_p": null,
"transcript": "NM_005255.4",
"protein_id": "NP_005246.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314167.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005255.4"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3283+910A>C",
"hgvs_p": null,
"transcript": "ENST00000314167.9",
"protein_id": "ENSP00000314499.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005255.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314167.9"
},
{
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3046+910A>C",
"hgvs_p": null,
"transcript": "ENST00000511163.5",
"protein_id": "ENSP00000421361.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1232,
"cds_start": null,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511163.5"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.640+910A>C",
"hgvs_p": null,
"transcript": "ENST00000510799.1",
"protein_id": "ENSP00000426062.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510799.1"
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3433+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904271.1",
"protein_id": "ENSP00000574330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1361,
"cds_start": null,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904271.1"
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3412+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904285.1",
"protein_id": "ENSP00000574344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1354,
"cds_start": null,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904285.1"
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3400+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904283.1",
"protein_id": "ENSP00000574342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1350,
"cds_start": null,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904283.1"
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3385+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904277.1",
"protein_id": "ENSP00000574336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1345,
"cds_start": null,
"cds_end": null,
"cds_length": 4038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904277.1"
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3382+666A>C",
"hgvs_p": null,
"transcript": "ENST00000904269.1",
"protein_id": "ENSP00000574328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": null,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904269.1"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3379+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904275.1",
"protein_id": "ENSP00000574334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": null,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904275.1"
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3283+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904278.1",
"protein_id": "ENSP00000574337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": null,
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"cds_length": 3996,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000904278.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
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"intron_rank_end": null,
"gene_symbol": "GAK",
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"hgvs_c": "c.3280+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904282.1",
"protein_id": "ENSP00000574341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1310,
"cds_start": null,
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"cds_length": 3933,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904282.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3277+910A>C",
"hgvs_p": null,
"transcript": "ENST00000935922.1",
"protein_id": "ENSP00000605981.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1309,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000935922.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3265+910A>C",
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"transcript": "ENST00000904279.1",
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"feature": "ENST00000904279.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3196+910A>C",
"hgvs_p": null,
"transcript": "ENST00000935928.1",
"protein_id": "ENSP00000605987.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000935928.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 23,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3193+910A>C",
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"transcript": "ENST00000904268.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3415+666A>C",
"hgvs_p": null,
"transcript": "ENST00000935929.1",
"protein_id": "ENSP00000605988.1",
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"biotype": "protein_coding",
"feature": "ENST00000935929.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3412+910A>C",
"hgvs_p": null,
"transcript": "ENST00000935925.1",
"protein_id": "ENSP00000605984.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3175+910A>C",
"hgvs_p": null,
"transcript": "ENST00000935927.1",
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},
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"strand": false,
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],
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},
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],
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"gene_symbol": "GAK",
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"transcript": "ENST00000935930.1",
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"biotype": "protein_coding",
"feature": "ENST00000935930.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3379+910A>C",
"hgvs_p": null,
"transcript": "ENST00000904273.1",
"protein_id": "ENSP00000574332.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1268,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904273.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}