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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: 13-108215053-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=108215053&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 108215053,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000442234.6",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-102+431T>C",
"hgvs_p": null,
"transcript": "NM_206937.2",
"protein_id": "NP_996820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "ENST00000442234.6",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-102+431T>C",
"hgvs_p": null,
"transcript": "ENST00000442234.6",
"protein_id": "ENSP00000402030.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": "NM_206937.2",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-29+3109T>C",
"hgvs_p": null,
"transcript": "ENST00000405925.2",
"protein_id": "ENSP00000385955.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-94+271T>C",
"hgvs_p": null,
"transcript": "NM_001352604.2",
"protein_id": "NP_001339533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 923,
"cds_start": -4,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4005,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-29+3109T>C",
"hgvs_p": null,
"transcript": "NM_001098268.2",
"protein_id": "NP_001091738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4043,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-185-335T>C",
"hgvs_p": null,
"transcript": "NM_001352598.2",
"protein_id": "NP_001339527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-209-335T>C",
"hgvs_p": null,
"transcript": "NM_001352599.2",
"protein_id": "NP_001339528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
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"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-102+431T>C",
"hgvs_p": null,
"transcript": "NM_001352600.2",
"protein_id": "NP_001339529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"cds_start": -4,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIG4",
"gene_hgnc_id": 6601,
"hgvs_c": "c.-210+271T>C",
"hgvs_p": null,
"transcript": "NM_001352601.2",
"protein_id": "NP_001339530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 911,
"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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],
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"gene_symbol": "LIG4",
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"hgvs_c": "c.-102+271T>C",
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"transcript": "NM_001352602.2",
"protein_id": "NP_001339531.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "LIG4",
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"hgvs_c": "c.-102+226T>C",
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{
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],
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},
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],
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}