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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: 12-120249277-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120249277&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120249277,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000637617.2",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385981.1",
"protein_id": "NP_001372910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "ENST00000637617.2",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "ENST00000637617.2",
"protein_id": "ENSP00000489840.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1081,
"cds_start": -4,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "NM_001385981.1",
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "ENST00000228307.11",
"protein_id": "ENSP00000228307.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3785,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "ENST00000424649.6",
"protein_id": "ENSP00000391283.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3683,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.-387+606C>G",
"hgvs_p": null,
"transcript": "ENST00000458477.6",
"protein_id": "ENSP00000395536.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3807,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385982.1",
"protein_id": "NP_001372911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 989,
"cds_start": -4,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4938,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385983.1",
"protein_id": "NP_001372912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 987,
"cds_start": -4,
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"cds_length": 2964,
"cdna_start": null,
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"cdna_length": 4932,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385984.1",
"protein_id": "NP_001372913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4671,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PXN",
"gene_hgnc_id": 9718,
"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385985.1",
"protein_id": "NP_001372914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
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"cdna_length": 4527,
"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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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "PXN",
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"hgvs_c": "c.13+16340C>G",
"hgvs_p": null,
"transcript": "NM_001385986.1",
"protein_id": "NP_001372915.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PXN",
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"hgvs_c": "c.13+16340C>G",
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"transcript": "NM_001385987.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "PXN",
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"hgvs_c": "c.13+16340C>G",
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"transcript": "ENST00000267257.11",
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],
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"gene_symbol": "PXN",
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],
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},
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],
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},
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],
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"gene_symbol": "PXN",
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"transcript": "NM_001385989.1",
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},
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"consequences": [
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],
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"gene_symbol": "PXN",
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"hgvs_c": "n.175+14955C>G",
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"transcript": "ENST00000440827.3",
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},
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],
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"gene_symbol": "PXN",
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"hgvs_c": "n.76+16340C>G",
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}