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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: X-40052340-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40052340&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40052340,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001123385.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "NM_001123385.2",
"protein_id": "NP_001116857.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5821,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "ENST00000378444.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123385.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000378444.9",
"protein_id": "ENSP00000367705.4",
"transcript_support_level": 1,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5821,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "NM_001123385.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378444.9"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000397354.7",
"protein_id": "ENSP00000380512.3",
"transcript_support_level": 1,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397354.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4881A>G",
"hgvs_p": "p.Ile1627Met",
"transcript": "ENST00000378455.8",
"protein_id": "ENSP00000367716.4",
"transcript_support_level": 1,
"aa_start": 1627,
"aa_end": null,
"aa_length": 1703,
"cds_start": 4881,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 5244,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378455.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "NM_001437510.1",
"protein_id": "NP_001424439.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5348,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437510.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000406200.4",
"protein_id": "ENSP00000384485.3",
"transcript_support_level": 2,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406200.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000615339.2",
"protein_id": "ENSP00000483217.2",
"transcript_support_level": 5,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5273,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615339.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000672922.2",
"protein_id": "ENSP00000499892.2",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5284,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672922.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000679513.1",
"protein_id": "ENSP00000505761.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5474,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679513.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000680831.1",
"protein_id": "ENSP00000505507.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5358,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680831.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000937654.1",
"protein_id": "ENSP00000607713.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5266,
"cdna_end": null,
"cdna_length": 6356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937654.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.5037A>G",
"hgvs_p": "p.Ile1679Met",
"transcript": "ENST00000937655.1",
"protein_id": "ENSP00000607714.1",
"transcript_support_level": null,
"aa_start": 1679,
"aa_end": null,
"aa_length": 1755,
"cds_start": 5037,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 5477,
"cdna_end": null,
"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937655.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4983A>G",
"hgvs_p": "p.Ile1661Met",
"transcript": "NM_001438207.1",
"protein_id": "NP_001425136.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1737,
"cds_start": 4983,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 5294,
"cdna_end": null,
"cdna_length": 6383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438207.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4983A>G",
"hgvs_p": "p.Ile1661Met",
"transcript": "ENST00000427012.3",
"protein_id": "ENSP00000403823.3",
"transcript_support_level": 5,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1737,
"cds_start": 4983,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 4983,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427012.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "NM_001123383.2",
"protein_id": "NP_001116855.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5246,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123383.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "NM_001438208.1",
"protein_id": "NP_001425137.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5141,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438208.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "NM_017745.6",
"protein_id": "NP_060215.4",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5719,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017745.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000342274.8",
"protein_id": "ENSP00000345923.4",
"transcript_support_level": 5,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
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"cdna_start": 5298,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342274.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000673391.1",
"protein_id": "ENSP00000500446.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
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"cds_length": 5166,
"cdna_start": 5128,
"cdna_end": null,
"cdna_length": 6196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673391.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000937651.1",
"protein_id": "ENSP00000607710.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
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"cdna_start": 5311,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937651.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000937653.1",
"protein_id": "ENSP00000607712.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1721,
"cds_start": 4935,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 5212,
"cdna_end": null,
"cdna_length": 6306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937653.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.4935A>G",
"hgvs_p": "p.Ile1645Met",
"transcript": "ENST00000937656.1",
"protein_id": "ENSP00000607715.1",
"transcript_support_level": null,
"aa_start": 1645,
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}
],
"message": null
}