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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: 3-69076730-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69076730&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69076730,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_003968.4",
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "NM_003968.4",
"protein_id": "NP_003959.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003968.4"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000361055.9",
"protein_id": "ENSP00000354340.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361055.9"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000854662.1",
"protein_id": "ENSP00000524721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": null,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854662.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000854663.1",
"protein_id": "ENSP00000524722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854663.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.150+1059T>G",
"hgvs_p": null,
"transcript": "ENST00000854668.1",
"protein_id": "ENSP00000524727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854668.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "NM_198195.2",
"protein_id": "NP_937838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198195.2"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000349511.8",
"protein_id": "ENSP00000340041.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349511.8"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000854661.1",
"protein_id": "ENSP00000524720.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854661.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000854660.1",
"protein_id": "ENSP00000524719.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": null,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854660.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000968751.1",
"protein_id": "ENSP00000638810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": null,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968751.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000854659.1",
"protein_id": "ENSP00000524718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
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"cds_length": 1311,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854659.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000931269.1",
"protein_id": "ENSP00000601328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931269.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000968749.1",
"protein_id": "ENSP00000638808.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 436,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000968749.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "UBA3",
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"hgvs_c": "c.141+1068T>G",
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"transcript": "ENST00000854666.1",
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"biotype": "protein_coding",
"feature": "ENST00000854666.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000968753.1",
"protein_id": "ENSP00000638812.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968753.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
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"gene_symbol": "UBA3",
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"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "NM_001363861.1",
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"biotype": "protein_coding",
"feature": "NM_001363861.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
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"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000415609.6",
"protein_id": "ENSP00000400294.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000415609.6"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000968747.1",
"protein_id": "ENSP00000638806.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000968747.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.141+1068T>G",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "UBA3",
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"hgvs_c": "c.183+1068T>G",
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"transcript": "ENST00000854667.1",
"protein_id": "ENSP00000524726.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 3,
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"gene_symbol": "UBA3",
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"hgvs_c": "c.183+1068T>G",
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"transcript": "ENST00000968750.1",
"protein_id": "ENSP00000638809.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968750.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.183+1068T>G",
"hgvs_p": null,
"transcript": "ENST00000968748.1",
"protein_id": "ENSP00000638807.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 408,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968748.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
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}