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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: 12-50145636-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50145636&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50145636,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000317551.12",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.198-1579A>C",
"hgvs_p": null,
"transcript": "NM_147190.5",
"protein_id": "NP_671723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": "ENST00000317551.12",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.198-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000317551.12",
"protein_id": "ENSP00000325485.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": "NM_147190.5",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.198-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000380189.8",
"protein_id": "ENSP00000369536.4",
"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": 2998,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.198-1579A>C",
"hgvs_p": null,
"transcript": "NM_001331070.3",
"protein_id": "NP_001317999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2643,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.198-1579A>C",
"hgvs_p": null,
"transcript": "NM_001331071.3",
"protein_id": "NP_001318000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2610,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-178-667A>C",
"hgvs_p": null,
"transcript": "NM_001281731.2",
"protein_id": "NP_001268660.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2708,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-178-667A>C",
"hgvs_p": null,
"transcript": "ENST00000422340.6",
"protein_id": "ENSP00000389050.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2855,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-178-667A>C",
"hgvs_p": null,
"transcript": "NM_001331069.3",
"protein_id": "NP_001317998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 323,
"cds_start": -4,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2811,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.198-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000547800.2",
"protein_id": "ENSP00000448295.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": -4,
"cds_end": null,
"cds_length": 779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 825,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-397-1272A>C",
"hgvs_p": null,
"transcript": "NM_001331072.3",
"protein_id": "NP_001318001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": -4,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2669,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "c.-397-1272A>C",
"hgvs_p": null,
"transcript": "NM_001331073.3",
"protein_id": "NP_001318002.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": -4,
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"cds_length": 714,
"cdna_start": null,
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"cdna_length": 2772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.198-2432A>C",
"hgvs_p": null,
"transcript": "ENST00000438450.6",
"protein_id": "ENSP00000407896.2",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.198-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000542320.5",
"protein_id": "ENSP00000442918.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.*81-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000546514.1",
"protein_id": "ENSP00000446931.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.*39-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000547455.5",
"protein_id": "ENSP00000448257.1",
"transcript_support_level": 4,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.198-667A>C",
"hgvs_p": null,
"transcript": "ENST00000547787.5",
"protein_id": "ENSP00000447410.1",
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"aa_start": null,
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000272368",
"gene_hgnc_id": null,
"hgvs_c": "n.106-19390T>G",
"hgvs_p": null,
"transcript": "ENST00000548468.2",
"protein_id": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.*9-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000549389.5",
"protein_id": "ENSP00000448755.1",
"transcript_support_level": 4,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.484-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000549942.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "CERS5",
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"transcript": "ENST00000550258.5",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CERS5",
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"hgvs_c": "n.198-575A>C",
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"transcript": "ENST00000550899.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.198-1579A>C",
"hgvs_p": null,
"transcript": "ENST00000551697.5",
"protein_id": "ENSP00000448794.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERS5",
"gene_hgnc_id": 23749,
"hgvs_c": "n.270-1579A>C",
"hgvs_p": null,
"transcript": "NR_104035.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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}
],
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}