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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: 16-28826194-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28826194&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28826194,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000336783.9",
"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": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "NM_007245.4",
"protein_id": "NP_009176.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000336783.9",
"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": 22,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000336783.9",
"protein_id": "ENSP00000338718.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": -4,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_007245.4",
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000395547.6",
"protein_id": "ENSP00000378917.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1097,
"cds_start": -4,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3981,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000564304.5",
"protein_id": "ENSP00000457613.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": -4,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3514,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000325215.10",
"protein_id": "ENSP00000315650.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": -4,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3788,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000570200.5",
"protein_id": "ENSP00000454516.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": -4,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3635,
"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": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000340394.12",
"protein_id": "ENSP00000341459.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": -4,
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"cds_length": 3135,
"cdna_start": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "ENST00000382686.8",
"protein_id": "ENSP00000372133.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": -4,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "n.73-46T>A",
"hgvs_p": null,
"transcript": "ENST00000565971.5",
"protein_id": "ENSP00000457599.1",
"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,
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"cdna_length": 3264,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 4,
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"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
"hgvs_p": null,
"transcript": "NM_001387166.1",
"protein_id": "NP_001374095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"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": 24,
"intron_rank": 4,
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"gene_symbol": "ATXN2L",
"gene_hgnc_id": 31326,
"hgvs_c": "c.466-46T>A",
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"transcript": "NM_001387167.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "ATXN2L",
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"transcript": "NM_148414.3",
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},
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],
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"gene_symbol": "ATXN2L",
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"hgvs_c": "c.466-46T>A",
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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": "ATXN2L",
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],
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"gene_symbol": "ATXN2L",
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},
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],
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"gene_symbol": "ATXN2L",
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