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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-40075041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40075041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40075041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000378444.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001123385.2",
"protein_id": "NP_001116857.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "ENST00000378444.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000378444.9",
"protein_id": "ENSP00000367705.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "NM_001123385.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000397354.7",
"protein_id": "ENSP00000380512.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 1721,
"cds_start": 305,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000378455.8",
"protein_id": "ENSP00000367716.4",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 1703,
"cds_start": 305,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001437510.1",
"protein_id": "NP_001424439.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000406200.4",
"protein_id": "ENSP00000384485.3",
"transcript_support_level": 2,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000615339.2",
"protein_id": "ENSP00000483217.2",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000672922.2",
"protein_id": "ENSP00000499892.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000679513.1",
"protein_id": "ENSP00000505761.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000680831.1",
"protein_id": "ENSP00000505507.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001438207.1",
"protein_id": "NP_001425136.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1737,
"cds_start": 305,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 6383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000427012.3",
"protein_id": "ENSP00000403823.3",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 1737,
"cds_start": 305,
"cds_end": null,
"cds_length": 5214,
"cdna_start": 305,
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"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001123383.2",
"protein_id": "NP_001116855.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1721,
"cds_start": 305,
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"cds_length": 5166,
"cdna_start": 616,
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"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001438208.1",
"protein_id": "NP_001425137.1",
"transcript_support_level": null,
"aa_start": 102,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_017745.6",
"protein_id": "NP_060215.4",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1721,
"cds_start": 305,
"cds_end": null,
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"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 6808,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000342274.8",
"protein_id": "ENSP00000345923.4",
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"aa_start": 102,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000673391.1",
"protein_id": "ENSP00000500446.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1721,
"cds_start": 305,
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"cdna_start": 498,
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"cdna_length": 6196,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001123384.2",
"protein_id": "NP_001116856.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1703,
"cds_start": 305,
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"cds_length": 5112,
"cdna_start": 616,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000413905.6",
"protein_id": "ENSP00000408006.2",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 1690,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "BCOR",
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"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "NM_001437511.1",
"protein_id": "NP_001424440.1",
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"aa_start": 102,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "ENST00000442018.6",
"protein_id": "ENSP00000387552.2",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "XM_005272618.4",
"protein_id": "XP_005272675.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1755,
"cds_start": 305,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.305G>A",
"hgvs_p": "p.Arg102Gln",
"transcript": "XM_006724536.4",
"protein_id": "XP_006724599.1",
"transcript_support_level": null,
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