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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: 5-65932423-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=65932423&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 65932423,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000284037.10",
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "NM_001253697.2",
"protein_id": "NP_001240626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1412,
"cds_start": -4,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8544,
"mane_select": "ENST00000284037.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "ENST00000284037.10",
"protein_id": "ENSP00000284037.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1412,
"cds_start": -4,
"cds_end": null,
"cds_length": 4239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8544,
"mane_select": "NM_001253697.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "ENST00000506030.6",
"protein_id": "ENSP00000426632.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "ENST00000380943.6",
"protein_id": "ENSP00000370330.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "NM_001253699.2",
"protein_id": "NP_001240628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "ENST00000699005.1",
"protein_id": "ENSP00000514083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1415,
"cds_start": -4,
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"cds_length": 4248,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
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"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "NM_018695.4",
"protein_id": "NP_061165.1",
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+25388G>T",
"hgvs_p": null,
"transcript": "ENST00000699000.1",
"protein_id": "ENSP00000514078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
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"cdna_length": 7356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 1,
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"gene_symbol": "ERBIN",
"gene_hgnc_id": 15842,
"hgvs_c": "c.-58+5617G>T",
"hgvs_p": null,
"transcript": "NM_001253701.2",
"protein_id": "NP_001240630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
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],
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"transcript": "ENST00000511297.5",
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},
{
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],
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],
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