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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: 12-98599865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=98599865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 98599865,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_005888.4",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "NM_005888.4",
"protein_id": "NP_005879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000228318.8",
"biotype": "protein_coding",
"feature": "NM_005888.4"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000228318.8",
"protein_id": "ENSP00000228318.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_005888.4",
"biotype": "protein_coding",
"feature": "ENST00000228318.8"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "NM_002635.4",
"protein_id": "NP_002626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000552981.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002635.4"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000552981.6",
"protein_id": "ENSP00000448708.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002635.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552981.6"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000188376.9",
"protein_id": "ENSP00000188376.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000188376.9"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000401722.7",
"protein_id": "ENSP00000383898.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401722.7"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "n.2323-90C>T",
"hgvs_p": null,
"transcript": "ENST00000546766.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000546766.5"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "n.*434-90C>T",
"hgvs_p": null,
"transcript": "ENST00000551123.5",
"protein_id": "ENSP00000449009.1",
"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": "ENST00000551123.5"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000551917.5",
"protein_id": "ENSP00000447310.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551917.5"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000875100.1",
"protein_id": "ENSP00000545159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875100.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000875101.1",
"protein_id": "ENSP00000545160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875101.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000875103.1",
"protein_id": "ENSP00000545162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": null,
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"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875103.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.645-90C>T",
"hgvs_p": null,
"transcript": "ENST00000944340.1",
"protein_id": "ENSP00000614399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"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": "ENST00000944340.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "NM_213611.3",
"protein_id": "NP_998776.1",
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213611.3"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000549338.5",
"protein_id": "ENSP00000447740.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549338.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000875102.1",
"protein_id": "ENSP00000545161.1",
"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": "ENST00000875102.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000918869.1",
"protein_id": "ENSP00000588928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
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"cds_length": 1086,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918869.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000918872.1",
"protein_id": "ENSP00000588931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918872.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000944338.1",
"protein_id": "ENSP00000614397.1",
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"feature": "ENST00000944338.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000944339.1",
"protein_id": "ENSP00000614398.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000944339.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.642-90C>T",
"hgvs_p": null,
"transcript": "ENST00000944341.1",
"protein_id": "ENSP00000614400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944341.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A3",
"gene_hgnc_id": 10989,
"hgvs_c": "c.639-90C>T",
"hgvs_p": null,
"transcript": "ENST00000918870.1",
"protein_id": "ENSP00000588929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": null,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}