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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: 14-24964647-C-CTGTGTGTGTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24964647&ref=C&alt=CTGTGTGTGTG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24964647,
"ref": "C",
"alt": "CTGTGTGTGTG",
"effect": "intron_variant",
"transcript": "NM_014178.9",
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394410.1",
"protein_id": "NP_001381339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323944.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394410.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000323944.10",
"protein_id": "ENSP00000324302.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394410.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323944.10"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000396700.5",
"protein_id": "ENSP00000379928.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396700.5"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000419632.6",
"protein_id": "ENSP00000397212.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419632.6"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000546511.5",
"protein_id": "ENSP00000449536.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546511.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001304476.3",
"protein_id": "NP_001291405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304476.3"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001304477.3",
"protein_id": "NP_001291406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304477.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001351940.3",
"protein_id": "NP_001338869.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351940.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001351941.3",
"protein_id": "NP_001338870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351941.3"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001351942.3",
"protein_id": "NP_001338871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"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_001351942.3"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001351943.3",
"protein_id": "NP_001338872.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001351943.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394411.1",
"protein_id": "NP_001381340.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 210,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394411.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394412.1",
"protein_id": "NP_001381341.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "STXBP6",
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"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
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"transcript": "NM_001394413.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001394413.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394414.1",
"protein_id": "NP_001381343.1",
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"aa_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001394414.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394415.1",
"protein_id": "NP_001381344.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001394415.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_001394416.1",
"protein_id": "NP_001381345.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001394416.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null,
"transcript": "NM_014178.9",
"protein_id": "NP_054897.4",
"transcript_support_level": null,
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"feature": "NM_014178.9"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000550887.5",
"protein_id": "ENSP00000449379.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
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"transcript": "ENST00000886564.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000886565.1",
"protein_id": "ENSP00000556624.1",
"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": "ENST00000886565.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"hgvs_c": "c.154+10017_154+10018insCACACACACA",
"hgvs_p": null,
"transcript": "ENST00000886567.1",
"protein_id": "ENSP00000556626.1",
"transcript_support_level": null,
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"transcript": "ENST00000548182.1",
"protein_id": "ENSP00000447268.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000548182.1"
}
],
"gene_symbol": "STXBP6",
"gene_hgnc_id": 19666,
"dbsnp": "rs34132743",
"frequency_reference_population": 0.02524301,
"hom_count_reference_population": 65,
"allele_count_reference_population": 3537,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.025243,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3537,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 65,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.045,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014178.9",
"gene_symbol": "STXBP6",
"hgnc_id": 19666,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.154+10008_154+10017dupCACACACACA",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}