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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: 12-46208090-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=46208090&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 46208090,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000398637.10",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "NM_030674.4",
"protein_id": "NP_109599.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": "ENST00000398637.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000398637.10",
"protein_id": "ENSP00000381634.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8097,
"mane_select": "NM_030674.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000552197.5",
"protein_id": "ENSP00000449756.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000439706.5",
"protein_id": "ENSP00000398142.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000546893.5",
"protein_id": "ENSP00000447853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000549049.5",
"protein_id": "ENSP00000449607.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "n.446-469C>T",
"hgvs_p": null,
"transcript": "ENST00000549633.5",
"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": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "NM_001278390.1",
"protein_id": "NP_001265319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "ENST00000612161.4",
"protein_id": "ENSP00000478907.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "NM_001077484.2",
"protein_id": "NP_001070952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": -4,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "NM_001278387.2",
"protein_id": "NP_001265316.1",
"transcript_support_level": null,
"aa_start": null,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
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"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
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"transcript": "NM_001278388.2",
"protein_id": "NP_001265317.1",
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
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"transcript": "NM_001278389.2",
"protein_id": "NP_001265318.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "n.548-469C>T",
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"transcript": "ENST00000551506.1",
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},
{
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],
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"gene_symbol": "SLC38A1",
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"hgvs_c": "c.389-469C>T",
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"transcript": "XM_011538784.3",
"protein_id": "XP_011537086.1",
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "XM_047429575.1",
"protein_id": "XP_047285531.1",
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},
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],
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"intron_rank": 7,
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"gene_symbol": "SLC38A1",
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"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "XM_047429576.1",
"protein_id": "XP_047285532.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "XM_047429577.1",
"protein_id": "XP_047285533.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 7,
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"gene_symbol": "SLC38A1",
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"hgvs_c": "c.389-469C>T",
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"transcript": "XM_047429578.1",
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},
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],
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},
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],
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"gene_symbol": "SLC38A1",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "XM_047429581.1",
"protein_id": "XP_047285537.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A1",
"gene_hgnc_id": 13447,
"hgvs_c": "c.389-469C>T",
"hgvs_p": null,
"transcript": "XM_047429582.1",
"protein_id": "XP_047285538.1",
"transcript_support_level": null,
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