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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: 1-52531568-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52531568&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52531568,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000257177.9",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "NM_001009881.3",
"protein_id": "NP_001009881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1645,
"cds_start": -4,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "ENST00000257177.9",
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000257177.9",
"protein_id": "ENSP00000257177.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1645,
"cds_start": -4,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5853,
"mane_select": "NM_001009881.3",
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-5-15514A>C",
"hgvs_p": null,
"transcript": "ENST00000484723.6",
"protein_id": "ENSP00000435256.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2910,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000355809.4",
"protein_id": "ENSP00000348063.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": -4,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-211-1683A>C",
"hgvs_p": null,
"transcript": "ENST00000470626.1",
"protein_id": "ENSP00000434367.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 883,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "n.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000473856.5",
"protein_id": "ENSP00000432328.1",
"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": 2047,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "NM_015269.2",
"protein_id": "NP_056084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1644,
"cds_start": -4,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5848,
"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": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000371544.7",
"protein_id": "ENSP00000360599.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1644,
"cds_start": -4,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5858,
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000528642.5",
"protein_id": "ENSP00000433486.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "ENST00000524582.1",
"protein_id": "ENSP00000435568.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
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"cds_length": 231,
"cdna_start": null,
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"cdna_length": 539,
"mane_select": null,
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"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": 30,
"intron_rank": 1,
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"gene_symbol": "TUT4",
"gene_hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>C",
"hgvs_p": null,
"transcript": "XM_005270676.3",
"protein_id": "XP_005270733.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "TUT4",
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},
{
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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"transcript": "XM_005270678.3",
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},
{
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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},
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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"transcript": "XM_047416324.1",
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},
{
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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},
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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"transcript": "XM_005270680.4",
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],
"exon_rank": null,
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],
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},
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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"transcript": "XM_017000803.2",
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},
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],
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"gene_symbol": "TUT4",
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"hgvs_c": "c.-93-5195A>C",
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"transcript": "XM_047416332.1",
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