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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-71132767-C-CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71132767&ref=C&alt=CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71132767,
"ref": "C",
"alt": "CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"effect": "intron_variant",
"transcript": "ENST00000374080.8",
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-45_4416-16dupCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT",
"hgvs_p": null,
"transcript": "NM_005120.3",
"protein_id": "NP_005111.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2177,
"cds_start": -4,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "ENST00000374080.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000374080.8",
"protein_id": "ENSP00000363193.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2177,
"cds_start": -4,
"cds_end": null,
"cds_length": 6534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6925,
"mane_select": "NM_005120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000374102.6",
"protein_id": "ENSP00000363215.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": -4,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000690145.1",
"protein_id": "ENSP00000508818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2179,
"cds_start": -4,
"cds_end": null,
"cds_length": 6540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000692304.1",
"protein_id": "ENSP00000508427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2176,
"cds_start": -4,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 46,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000690242.1",
"protein_id": "ENSP00000510090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2155,
"cds_start": -4,
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"cds_length": 6468,
"cdna_start": null,
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"cdna_length": 6912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4416-78_4416-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000687382.1",
"protein_id": "ENSP00000510724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2152,
"cds_start": -4,
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"cds_length": 6459,
"cdna_start": null,
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"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4296-78_4296-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000333646.11",
"protein_id": "ENSP00000333125.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2137,
"cds_start": -4,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
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"cdna_length": 6797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "MED12",
"gene_hgnc_id": 11957,
"hgvs_c": "c.4380-78_4380-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000693324.1",
"protein_id": "ENSP00000508643.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "MED12",
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"hgvs_c": "c.4365-78_4365-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
"hgvs_p": null,
"transcript": "ENST00000691468.1",
"protein_id": "ENSP00000509011.1",
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},
{
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],
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"gene_symbol": "MED12",
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"hgvs_c": "c.2361-78_2361-77insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT",
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"transcript": "ENST00000693391.1",
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},
{
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],
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},
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],
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],
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},
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],
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},
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],
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},
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],
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],
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},
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],
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