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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: 3-45699371-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=45699371&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 45699371,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000389061.10",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "NM_014016.5",
"protein_id": "NP_054735.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "ENST00000389061.10",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000389061.10",
"protein_id": "ENSP00000373713.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "NM_014016.5",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "n.-277-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000455997.5",
"protein_id": "ENSP00000389975.1",
"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": 4661,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "NM_001319071.2",
"protein_id": "NP_001306000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3574,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000672858.2",
"protein_id": "ENSP00000500542.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1830,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000706807.1",
"protein_id": "ENSP00000516564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": -4,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7436,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000706806.1",
"protein_id": "ENSP00000516563.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3490,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.33-4067G>A",
"hgvs_p": null,
"transcript": "ENST00000706818.1",
"protein_id": "ENSP00000516571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3441,
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.-23-4067G>A",
"hgvs_p": null,
"transcript": "NM_001319072.2",
"protein_id": "NP_001306001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
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"cds_length": 1581,
"cdna_start": null,
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"cdna_length": 3446,
"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,
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"exon_count": 20,
"intron_rank": 2,
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"gene_symbol": "SACM1L",
"gene_hgnc_id": 17059,
"hgvs_c": "c.-23-4067G>A",
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"transcript": "NM_001437893.1",
"protein_id": "NP_001424822.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SACM1L",
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"hgvs_c": "c.-23-4067G>A",
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"transcript": "ENST00000438671.4",
"protein_id": "ENSP00000411966.2",
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},
{
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],
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"transcript": "NM_001319073.2",
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},
{
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],
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"gene_symbol": "SACM1L",
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"hgvs_c": "c.-277-4067G>A",
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"transcript": "ENST00000418611.5",
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},
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],
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},
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],
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},
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],
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},
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],
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"gene_symbol": "SACM1L",
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"hgvs_c": "n.33-4067G>A",
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"transcript": "ENST00000441228.5",
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},
{
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],
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"gene_symbol": "SACM1L",
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"hgvs_c": "n.33-4067G>A",
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"transcript": "ENST00000445499.3",
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},
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],
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],
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],
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},
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"strand": true,
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],
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"gene_symbol": "SACM1L",
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"transcript": "ENST00000464524.5",
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},
{
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "SACM1L",
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"hgvs_c": "n.202-4067G>A",
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