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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: 12-66455628-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=66455628&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 66455628,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000359742.9",
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1199-64A>G",
"hgvs_p": null,
"transcript": "NM_001366722.1",
"protein_id": "NP_001353651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": -4,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000359742.9",
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1199-64A>G",
"hgvs_p": null,
"transcript": "ENST00000359742.9",
"protein_id": "ENSP00000352780.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1128,
"cds_start": -4,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_001366722.1",
"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": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1043-64A>G",
"hgvs_p": null,
"transcript": "ENST00000398016.7",
"protein_id": "ENSP00000381098.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1076,
"cds_start": -4,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4888,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.874+7296A>G",
"hgvs_p": null,
"transcript": "ENST00000536215.5",
"protein_id": "ENSP00000446011.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 786,
"cds_start": -4,
"cds_end": null,
"cds_length": 2362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1277-64A>G",
"hgvs_p": null,
"transcript": "NM_001379345.1",
"protein_id": "NP_001366274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1154,
"cds_start": -4,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5137,
"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": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1268-64A>G",
"hgvs_p": null,
"transcript": "ENST00000696989.1",
"protein_id": "ENSP00000513025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1136,
"cds_start": -4,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
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"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1202-64A>G",
"hgvs_p": null,
"transcript": "NM_001439322.1",
"protein_id": "NP_001426251.1",
"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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"mane_select": null,
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"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": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1199-64A>G",
"hgvs_p": null,
"transcript": "NM_001379346.1",
"protein_id": "NP_001366275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5102,
"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": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "GRIP1",
"gene_hgnc_id": 18708,
"hgvs_c": "c.1202-67A>G",
"hgvs_p": null,
"transcript": "NM_001439323.1",
"protein_id": "NP_001426252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
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"cds_length": 3342,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 9,
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"gene_symbol": "GRIP1",
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"hgvs_c": "c.1121-64A>G",
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"transcript": "NM_001366724.1",
"protein_id": "NP_001353653.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "GRIP1",
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"hgvs_c": "c.1121-67A>G",
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"transcript": "NM_001366723.1",
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},
{
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],
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],
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},
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],
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"transcript": "ENST00000540854.5",
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},
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],
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"gene_symbol": "GRIP1",
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"hgvs_c": "n.*72-64A>G",
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"transcript": "ENST00000535002.1",
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}