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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: 11-108412434-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108412434&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108412434,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000393084.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5285G>T",
"hgvs_p": null,
"transcript": "NM_152587.5",
"protein_id": "NP_689800.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": "ENST00000393084.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5285G>T",
"hgvs_p": null,
"transcript": "ENST00000393084.6",
"protein_id": "ENSP00000376799.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1276,
"mane_select": "NM_152587.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5285G>T",
"hgvs_p": null,
"transcript": "ENST00000615746.4",
"protein_id": "ENSP00000483537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5285G>T",
"hgvs_p": null,
"transcript": "ENST00000529391.5",
"protein_id": "ENSP00000436400.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.82-5471G>T",
"hgvs_p": null,
"transcript": "NM_001330368.2",
"protein_id": "NP_001317297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.82-5471G>T",
"hgvs_p": null,
"transcript": "ENST00000525729.5",
"protein_id": "ENSP00000433395.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.82-5285G>T",
"hgvs_p": null,
"transcript": "NM_001351110.2",
"protein_id": "NP_001338039.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 242,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1388,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5471G>T",
"hgvs_p": null,
"transcript": "ENST00000533583.1",
"protein_id": "ENSP00000434500.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "n.175-5285G>T",
"hgvs_p": null,
"transcript": "ENST00000527531.5",
"protein_id": "ENSP00000431706.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "n.336-5285G>T",
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"transcript": "NR_147053.3",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "C11orf65",
"gene_hgnc_id": 28519,
"hgvs_c": "c.175-5285G>T",
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"transcript": "XM_047426458.1",
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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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"gene_symbol": "C11orf65",
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}