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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: 12-68915597-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68915597&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68915597,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000551568.6",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_198320.5",
"protein_id": "NP_938079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": "ENST00000551568.6",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "ENST00000551568.6",
"protein_id": "ENSP00000448517.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6627,
"mane_select": "NM_198320.5",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "ENST00000338356.7",
"protein_id": "ENSP00000339157.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6636,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "ENST00000546373.5",
"protein_id": "ENSP00000447255.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2116,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001413387.1",
"protein_id": "NP_001400316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6663,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001005502.3",
"protein_id": "NP_001005502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6637,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001413388.1",
"protein_id": "NP_001400317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
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"cds_length": 1332,
"cdna_start": null,
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"cdna_length": 7027,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001413389.1",
"protein_id": "NP_001400318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6627,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001413390.1",
"protein_id": "NP_001400319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
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"cdna_length": 6654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.160+17081T>C",
"hgvs_p": null,
"transcript": "NM_001413391.1",
"protein_id": "NP_001400320.1",
"transcript_support_level": null,
"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": 2,
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"gene_symbol": "CPM",
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"hgvs_c": "c.160+17081T>C",
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"transcript": "NM_001874.5",
"protein_id": "NP_001865.1",
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},
{
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],
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{
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],
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"gene_symbol": "CPM",
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"hgvs_c": "c.160+17081T>C",
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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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],
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},
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"gene_symbol": "CPM",
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],
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "CPM",
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"hgvs_c": "c.-125+17081T>C",
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