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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: 2-239313206-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239313206&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239313206,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000543185.6",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "NM_001378414.1",
"protein_id": "NP_001365343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": -4,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8461,
"mane_select": "ENST00000543185.6",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "ENST00000543185.6",
"protein_id": "ENSP00000440481.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": -4,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8461,
"mane_select": "NM_001378414.1",
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "ENST00000345617.7",
"protein_id": "ENSP00000264606.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8976,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.494+39472C>T",
"hgvs_p": null,
"transcript": "ENST00000493582.5",
"protein_id": null,
"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": 3188,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "NM_001378415.1",
"protein_id": "NP_001365344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1089,
"cds_start": -4,
"cds_end": null,
"cds_length": 3270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8666,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "NM_001378416.1",
"protein_id": "NP_001365345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
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"cdna_length": 8446,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "NM_001378417.1",
"protein_id": "NP_001365346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8651,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "c.22+39472C>T",
"hgvs_p": null,
"transcript": "NM_006037.4",
"protein_id": "NP_006028.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": -4,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9047,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HDAC4",
"gene_hgnc_id": 14063,
"hgvs_c": "n.297+11103C>T",
"hgvs_p": null,
"transcript": "ENST00000685474.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 637,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "HDAC4",
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"hgvs_c": "n.284+39472C>T",
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"transcript": "NR_026664.2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "HDAC4",
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"hgvs_c": "n.284+39472C>T",
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"transcript": "NR_198957.1",
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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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}