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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-40073555-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=40073555&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 40073555,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378444.9",
"consequences": [
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001123385.2",
"protein_id": "NP_001116857.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "ENST00000378444.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000378444.9",
"protein_id": "ENSP00000367705.4",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 6910,
"mane_select": "NM_001123385.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000397354.7",
"protein_id": "ENSP00000380512.3",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 1721,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5166,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000378455.8",
"protein_id": "ENSP00000367716.4",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 1703,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5112,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 6338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001437510.1",
"protein_id": "NP_001424439.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000406200.4",
"protein_id": "ENSP00000384485.3",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000615339.2",
"protein_id": "ENSP00000483217.2",
"transcript_support_level": 5,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 6362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000672922.2",
"protein_id": "ENSP00000499892.2",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000679513.1",
"protein_id": "ENSP00000505761.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000680831.1",
"protein_id": "ENSP00000505507.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1755,
"cds_start": 1791,
"cds_end": null,
"cds_length": 5268,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001438207.1",
"protein_id": "NP_001425136.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1737,
"cds_start": 1791,
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"cds_length": 5214,
"cdna_start": 2102,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000427012.3",
"protein_id": "ENSP00000403823.3",
"transcript_support_level": 5,
"aa_start": 597,
"aa_end": null,
"aa_length": 1737,
"cds_start": 1791,
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"cdna_start": 1791,
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"mane_select": null,
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"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": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001123383.2",
"protein_id": "NP_001116855.1",
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"cdna_start": 2102,
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"feature": null
},
{
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"canonical": false,
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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",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001438208.1",
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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",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_017745.6",
"protein_id": "NP_060215.4",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 1721,
"cds_start": 1791,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000342274.8",
"protein_id": "ENSP00000345923.4",
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},
{
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"protein_coding": true,
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"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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000673391.1",
"protein_id": "ENSP00000500446.1",
"transcript_support_level": null,
"aa_start": 597,
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"cdna_start": 1984,
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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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001123384.2",
"protein_id": "NP_001116856.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "BCOR",
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"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "ENST00000413905.6",
"protein_id": "ENSP00000408006.2",
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},
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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.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "NM_001437511.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "BCOR",
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"hgvs_c": "c.1791C>G",
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"transcript": "ENST00000442018.6",
"protein_id": "ENSP00000387552.2",
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"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCOR",
"gene_hgnc_id": 20893,
"hgvs_c": "c.1791C>G",
"hgvs_p": "p.His597Gln",
"transcript": "XM_005272618.4",
"protein_id": "XP_005272675.1",
"transcript_support_level": null,
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"cdna_start": 1859,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "BCOR",
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