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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: 2-17548048-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17548048&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17548048,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001366804.2",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7130C>G",
"hgvs_p": null,
"transcript": "NM_003385.5",
"protein_id": "NP_003376.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": "ENST00000295156.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003385.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7130C>G",
"hgvs_p": null,
"transcript": "ENST00000295156.9",
"protein_id": "ENSP00000295156.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2428,
"mane_select": "NM_003385.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295156.9"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+8646C>G",
"hgvs_p": null,
"transcript": "ENST00000404666.6",
"protein_id": "ENSP00000384014.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404666.6"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7130C>G",
"hgvs_p": null,
"transcript": "ENST00000913178.1",
"protein_id": "ENSP00000583237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913178.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7130C>G",
"hgvs_p": null,
"transcript": "ENST00000894192.1",
"protein_id": "ENSP00000564251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": null,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894192.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7130C>G",
"hgvs_p": null,
"transcript": "NM_001366804.2",
"protein_id": "NP_001353733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366804.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7866C>G",
"hgvs_p": null,
"transcript": "NM_001366803.2",
"protein_id": "NP_001353732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366803.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-2+7130C>G",
"hgvs_p": null,
"transcript": "NM_001366806.2",
"protein_id": "NP_001353735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366806.2"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+6369C>G",
"hgvs_p": null,
"transcript": "ENST00000406397.1",
"protein_id": "ENSP00000384719.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406397.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+8645C>G",
"hgvs_p": null,
"transcript": "ENST00000894184.1",
"protein_id": "ENSP00000564243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894184.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-2+8645C>G",
"hgvs_p": null,
"transcript": "ENST00000894185.1",
"protein_id": "ENSP00000564244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000894185.1"
},
{
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"canonical": false,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-2+7866C>G",
"hgvs_p": null,
"transcript": "ENST00000894186.1",
"protein_id": "ENSP00000564245.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000894186.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-2+7130C>G",
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"transcript": "ENST00000894187.1",
"protein_id": "ENSP00000564246.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000894187.1"
},
{
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"strand": true,
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],
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"exon_count": 5,
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"gene_symbol": "VSNL1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-93+7130C>G",
"hgvs_p": null,
"transcript": "ENST00000894190.1",
"protein_id": "ENSP00000564249.1",
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"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": "ENST00000894190.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-187+7130C>G",
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},
{
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+6667C>G",
"hgvs_p": null,
"transcript": "ENST00000894193.1",
"protein_id": "ENSP00000564252.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000894193.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-124+2025C>G",
"hgvs_p": null,
"transcript": "ENST00000894194.1",
"protein_id": "ENSP00000564253.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-6+3861C>G",
"hgvs_p": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-75+3861C>G",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "VSNL1",
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"hgvs_c": "c.-6+2025C>G",
"hgvs_p": null,
"transcript": "ENST00000894197.1",
"protein_id": "ENSP00000564256.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894197.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "VSNL1",
"gene_hgnc_id": 12722,
"hgvs_c": "c.-6+7699C>G",
"hgvs_p": null,
"transcript": "ENST00000913170.1",
"protein_id": "ENSP00000583229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 191,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913170.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
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}