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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: 13-114255036-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114255036&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 114255036,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000356221.8",
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1098-2042C>A",
"hgvs_p": null,
"transcript": "NM_001078645.3",
"protein_id": "NP_001072113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": "ENST00000356221.8",
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1098-2042C>A",
"hgvs_p": null,
"transcript": "ENST00000356221.8",
"protein_id": "ENSP00000348554.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": "NM_001078645.3",
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1095-2042C>A",
"hgvs_p": null,
"transcript": "ENST00000252457.9",
"protein_id": "ENSP00000252457.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.816-2042C>A",
"hgvs_p": null,
"transcript": "ENST00000375308.5",
"protein_id": "ENSP00000364457.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.816-2042C>A",
"hgvs_p": null,
"transcript": "ENST00000375310.5",
"protein_id": "ENSP00000364459.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 526,
"cds_start": -4,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2156,
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.816-4299C>A",
"hgvs_p": null,
"transcript": "ENST00000252458.6",
"protein_id": "ENSP00000252458.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": -4,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1098-2042C>A",
"hgvs_p": null,
"transcript": "NM_003903.5",
"protein_id": "NP_003894.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 620,
"cds_start": -4,
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"cds_length": 1863,
"cdna_start": null,
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"cdna_length": 2201,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1098-2042C>A",
"hgvs_p": null,
"transcript": "ENST00000360383.7",
"protein_id": "ENSP00000353549.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2211,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CDC16",
"gene_hgnc_id": 1720,
"hgvs_c": "c.1095-2042C>A",
"hgvs_p": null,
"transcript": "NM_001318517.3",
"protein_id": "NP_001305446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CDC16",
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"hgvs_c": "c.1095-2042C>A",
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"transcript": "NM_001330101.2",
"protein_id": "NP_001317030.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "CDC16",
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"hgvs_c": "c.1095-4299C>A",
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"transcript": "NM_001318518.3",
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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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"gene_symbol": "CDC16",
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],
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},
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],
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"gene_symbol": "CDC16",
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}