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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: 18-37042902-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=37042902&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 37042902,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000280020.10",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.577-23988C>T",
"hgvs_p": null,
"transcript": "NM_020776.3",
"protein_id": "NP_065827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "ENST00000280020.10",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.577-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000280020.10",
"protein_id": "ENSP00000280020.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 577,
"cds_start": -4,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4853,
"mane_select": "NM_020776.3",
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.565-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000591619.5",
"protein_id": "ENSP00000465550.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5881,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.-276-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000586135.1",
"protein_id": "ENSP00000467507.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": -4,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "n.*236-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000590617.5",
"protein_id": "ENSP00000467248.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1835,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.538-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000587139.5",
"protein_id": "ENSP00000466355.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3256,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.565-23988C>T",
"hgvs_p": null,
"transcript": "NM_001353918.2",
"protein_id": "NP_001340847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4841,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.253-23988C>T",
"hgvs_p": null,
"transcript": "NM_001322327.2",
"protein_id": "NP_001309256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4866,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.253-23988C>T",
"hgvs_p": null,
"transcript": "NM_001353919.2",
"protein_id": "NP_001340848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": -4,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4758,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.-277+22475C>T",
"hgvs_p": null,
"transcript": "NM_001353920.2",
"protein_id": "NP_001340849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 3,
"intron_rank": 2,
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"gene_symbol": "KIAA1328",
"gene_hgnc_id": 29248,
"hgvs_c": "c.-276-23988C>T",
"hgvs_p": null,
"transcript": "ENST00000591911.1",
"protein_id": "ENSP00000470002.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "KIAA1328",
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"hgvs_c": "n.*236-23988C>T",
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"transcript": "ENST00000592611.5",
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},
{
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],
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"gene_symbol": "KIAA1328",
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"hgvs_c": "n.589-23988C>T",
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"transcript": "NR_136303.3",
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},
{
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"strand": true,
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],
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"gene_symbol": "KIAA1328",
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],
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},
{
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],
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"gene_symbol": "KIAA1328",
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"transcript": "XM_005258315.6",
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},
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],
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"gene_symbol": "KIAA1328",
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"hgvs_c": "c.565-23988C>T",
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"transcript": "XM_047437677.1",
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],
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"gene_symbol": "KIAA1328",
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"hgvs_c": "c.442-23988C>T",
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"transcript": "XM_005258318.6",
"protein_id": "XP_005258375.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 11,
"intron_rank": 6,
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"gene_symbol": "KIAA1328",
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"hgvs_c": "c.442-23988C>T",
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"transcript": "XM_011526099.3",
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}