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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: 5-66149503-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66149503&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 66149503,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001077199.3",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "NM_001077199.3",
"protein_id": "NP_001070667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334121.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077199.3"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000334121.11",
"protein_id": "ENSP00000334538.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077199.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334121.11"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-311-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000380918.7",
"protein_id": "ENSP00000370305.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380918.7"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000612404.4",
"protein_id": "ENSP00000481430.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612404.4"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "n.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000522912.5",
"protein_id": "ENSP00000427935.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522912.5"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "NM_001323529.2",
"protein_id": "NP_001310458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323529.2"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000868036.1",
"protein_id": "ENSP00000538095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868036.1"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000936174.1",
"protein_id": "ENSP00000606233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936174.1"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000936175.1",
"protein_id": "ENSP00000606234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936175.1"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "NM_001323533.2",
"protein_id": "NP_001310462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": null,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323533.2"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-311-3960G>C",
"hgvs_p": null,
"transcript": "NM_001323527.2",
"protein_id": "NP_001310456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323527.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-311-3960G>C",
"hgvs_p": null,
"transcript": "NM_139168.4",
"protein_id": "NP_631907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139168.4"
},
{
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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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-311-3960G>C",
"hgvs_p": null,
"transcript": "NM_001270492.2",
"protein_id": "NP_001257421.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270492.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "SREK1",
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"hgvs_c": "c.162-3960G>C",
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"transcript": "ENST00000868037.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000868037.1"
},
{
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"canonical": false,
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.162-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000972140.1",
"protein_id": "ENSP00000642199.1",
"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": "ENST00000972140.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "SREK1",
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"hgvs_c": "c.162-3960G>C",
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"transcript": "ENST00000972139.1",
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"biotype": "protein_coding",
"feature": "ENST00000972139.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-649-3960G>C",
"hgvs_p": null,
"transcript": "NM_001323534.2",
"protein_id": "NP_001310463.1",
"transcript_support_level": null,
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"aa_length": 359,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323534.2"
},
{
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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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-525-3960G>C",
"hgvs_p": null,
"transcript": "NM_001323535.2",
"protein_id": "NP_001310464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "NM_001323535.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.161+4966G>C",
"hgvs_p": null,
"transcript": "ENST00000936176.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-311-3960G>C",
"hgvs_p": null,
"transcript": "ENST00000521691.5",
"protein_id": "ENSP00000428272.1",
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"feature": "ENST00000521691.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-5809-3960G>C",
"hgvs_p": null,
"transcript": "XM_047416738.1",
"protein_id": "XP_047272694.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 508,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416738.1"
},
{
"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": "SREK1",
"gene_hgnc_id": 17882,
"hgvs_c": "c.-5809-3960G>C",
"hgvs_p": null,
"transcript": "XM_047416740.1",
"protein_id": "XP_047272696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416740.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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"verdict": "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
}