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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: 4-168408170-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168408170&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168408170,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000682922.1",
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "NM_001012967.3",
"protein_id": "NP_001012985.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": -4,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": "ENST00000682922.1",
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "ENST00000682922.1",
"protein_id": "ENSP00000507872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": -4,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": "NM_001012967.3",
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "NM_001345927.2",
"protein_id": "NP_001332856.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6762,
"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": 39,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "NM_001378072.1",
"protein_id": "NP_001365001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"cds_start": -4,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7069,
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "ENST00000511577.5",
"protein_id": "ENSP00000422423.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1706,
"cds_start": -4,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6781,
"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": 30,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "NM_001291510.2",
"protein_id": "NP_001278439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4576,
"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": 30,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "ENST00000505890.5",
"protein_id": "ENSP00000422202.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": -4,
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"cds_length": 3927,
"cdna_start": null,
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"cdna_length": 4568,
"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": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2068-1464C>T",
"hgvs_p": null,
"transcript": "ENST00000505863.1",
"protein_id": "ENSP00000421026.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2605,
"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": 38,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "DDX60L",
"gene_hgnc_id": 26429,
"hgvs_c": "c.2980-1464C>T",
"hgvs_p": null,
"transcript": "XM_005263341.5",
"protein_id": "XP_005263398.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1707,
"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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "DDX60L",
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"hgvs_c": "c.2980-1464C>T",
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"transcript": "XM_005263343.3",
"protein_id": "XP_005263400.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 39,
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"gene_symbol": "DDX60L",
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"hgvs_c": "c.2980-1464C>T",
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"transcript": "XM_006714408.3",
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},
{
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],
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},
{
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],
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"gene_symbol": "DDX60L",
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},
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],
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},
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],
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"gene_symbol": "DDX60L",
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"transcript": "XM_047416399.1",
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},
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],
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"gene_symbol": "DDX60L",
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"hgvs_c": "c.2884-1464C>T",
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},
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],
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"gene_symbol": "DDX60L",
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"hgvs_c": "c.2980-1464C>T",
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},
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],
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"gene_symbol": "DDX60L",
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{
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"verdict": "Benign",
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"clinvar_disease": "",
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}
],
"message": null
}