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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: 6-130122979-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=130122979&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 130122979,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000361794.7",
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1966+2021C>A",
"hgvs_p": null,
"transcript": "NM_032438.4",
"protein_id": "NP_115814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000361794.7",
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1966+2021C>A",
"hgvs_p": null,
"transcript": "ENST00000361794.7",
"protein_id": "ENSP00000354526.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_032438.4",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "ENST00000533560.5",
"protein_id": "ENSP00000437185.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3165,
"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": 20,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1966+2021C>A",
"hgvs_p": null,
"transcript": "ENST00000368136.3",
"protein_id": "ENSP00000357118.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": -4,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4245,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "NM_001007102.4",
"protein_id": "NP_001007103.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4131,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "NM_001346550.2",
"protein_id": "NP_001333479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4117,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "NM_001346551.2",
"protein_id": "NP_001333480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
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"cds_length": 2268,
"cdna_start": null,
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"cdna_length": 4225,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "ENST00000368139.6",
"protein_id": "ENSP00000357121.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4148,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.1891+2021C>A",
"hgvs_p": null,
"transcript": "ENST00000526019.5",
"protein_id": "ENSP00000436706.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 755,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3243,
"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": 23,
"intron_rank": 20,
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"gene_symbol": "L3MBTL3",
"gene_hgnc_id": 23035,
"hgvs_c": "c.2071+2021C>A",
"hgvs_p": null,
"transcript": "XM_006715576.4",
"protein_id": "XP_006715639.1",
"transcript_support_level": null,
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"cdna_start": null,
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"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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"gene_symbol": "L3MBTL3",
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"hgvs_c": "c.2071+2021C>A",
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},
{
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],
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},
{
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],
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"gene_symbol": "L3MBTL3",
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},
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],
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},
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],
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"gene_symbol": "L3MBTL3",
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},
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],
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"gene_symbol": "L3MBTL3",
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},
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],
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"gene_symbol": "L3MBTL3",
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},
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],
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}
],
"message": null
}