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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: 13-98810339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=98810339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 98810339,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000682017.1",
"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": 53,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5131-48G>A",
"hgvs_p": null,
"transcript": "NM_001366683.2",
"protein_id": "NP_001353612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2092,
"cds_start": -4,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7631,
"mane_select": "ENST00000682017.1",
"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": 53,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5131-48G>A",
"hgvs_p": null,
"transcript": "ENST00000682017.1",
"protein_id": "ENSP00000507034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2092,
"cds_start": -4,
"cds_end": null,
"cds_length": 6279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7631,
"mane_select": "NM_001366683.2",
"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": 55,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5200-48G>A",
"hgvs_p": null,
"transcript": "NM_001366681.2",
"protein_id": "NP_001353610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2127,
"cds_start": -4,
"cds_end": null,
"cds_length": 6384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7736,
"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": 54,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5200-48G>A",
"hgvs_p": null,
"transcript": "NM_001366684.2",
"protein_id": "NP_001353613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": -4,
"cds_end": null,
"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7700,
"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": 54,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5131-48G>A",
"hgvs_p": null,
"transcript": "NM_001366682.2",
"protein_id": "NP_001353611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2104,
"cds_start": -4,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7667,
"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": 54,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5074-48G>A",
"hgvs_p": null,
"transcript": "NM_001366677.2",
"protein_id": "NP_001353606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2085,
"cds_start": -4,
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"cds_length": 6258,
"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": 45,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5098-48G>A",
"hgvs_p": null,
"transcript": "ENST00000448493.7",
"protein_id": "ENSP00000401958.4",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 2081,
"cds_start": -4,
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"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": 57,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5167-48G>A",
"hgvs_p": null,
"transcript": "NM_001366678.2",
"protein_id": "NP_001353607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2080,
"cds_start": -4,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7739,
"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": 56,
"intron_rank": 46,
"intron_rank_end": null,
"gene_symbol": "DOCK9",
"gene_hgnc_id": 14132,
"hgvs_c": "c.5167-48G>A",
"hgvs_p": null,
"transcript": "ENST00000703211.1",
"protein_id": "ENSP00000515238.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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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"gene_symbol": "DOCK9",
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"hgvs_c": "c.5038-48G>A",
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"transcript": "NM_001366679.2",
"protein_id": "NP_001353608.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "DOCK9",
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"hgvs_c": "c.5134-48G>A",
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"transcript": "NM_015296.3",
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],
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],
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],
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"gene_symbol": "DOCK9",
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],
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