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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: 8-130012788-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=130012788&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 130012788,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000694912.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-190+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353258.2",
"protein_id": "NP_001340187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": "ENST00000694912.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-190+3582G>A",
"hgvs_p": null,
"transcript": "ENST00000694912.1",
"protein_id": "ENSP00000511587.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": "NM_001353258.2",
"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": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-286+3582G>A",
"hgvs_p": null,
"transcript": "ENST00000523509.5",
"protein_id": "ENSP00000429802.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1968,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-296+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353242.2",
"protein_id": "NP_001340171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4010,
"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": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-286+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353243.2",
"protein_id": "NP_001340172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4000,
"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": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-190+4230G>A",
"hgvs_p": null,
"transcript": "NM_001353245.1",
"protein_id": "NP_001340174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3825,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-137+3819G>A",
"hgvs_p": null,
"transcript": "NM_001353246.1",
"protein_id": "NP_001340175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3751,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-236+3819G>A",
"hgvs_p": null,
"transcript": "NM_001353247.1",
"protein_id": "NP_001340176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3850,
"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": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-186+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353248.2",
"protein_id": "NP_001340177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-103+3819G>A",
"hgvs_p": null,
"transcript": "NM_001353249.1",
"protein_id": "NP_001340178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
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"cds_length": 975,
"cdna_start": null,
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"cdna_length": 3717,
"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": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-190+3819G>A",
"hgvs_p": null,
"transcript": "NM_001353250.1",
"protein_id": "NP_001340179.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 324,
"cds_start": -4,
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"cdna_start": null,
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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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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-419+3819G>A",
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"transcript": "NM_001353251.1",
"protein_id": "NP_001340180.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-50+3819G>A",
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"transcript": "NM_001353252.1",
"protein_id": "NP_001340181.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-286+3819G>A",
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"transcript": "NM_001353253.1",
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},
{
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],
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"gene_symbol": "CYRIB",
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"transcript": "NM_001353254.2",
"protein_id": "NP_001340183.1",
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},
{
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-296+3819G>A",
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"transcript": "NM_001353255.1",
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},
{
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],
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-149+3582G>A",
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"transcript": "NM_001353256.2",
"protein_id": "NP_001340185.1",
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-64+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353257.2",
"protein_id": "NP_001340186.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-373+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353259.2",
"protein_id": "NP_001340188.1",
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},
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],
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"gene_symbol": "CYRIB",
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},
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"strand": false,
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],
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-236+3582G>A",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "CYRIB",
"gene_hgnc_id": 25216,
"hgvs_c": "c.-137+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353262.2",
"protein_id": "NP_001340191.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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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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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "CYRIB",
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"hgvs_c": "c.-50+3582G>A",
"hgvs_p": null,
"transcript": "NM_001353263.2",
"protein_id": "NP_001340192.1",
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}