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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: 6-5288973-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=5288973&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 5288973,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000274680.9",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27313G>T",
"hgvs_p": null,
"transcript": "NM_006567.5",
"protein_id": "NP_006558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "ENST00000274680.9",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27313G>T",
"hgvs_p": null,
"transcript": "ENST00000274680.9",
"protein_id": "ENSP00000274680.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": "NM_006567.5",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27615G>T",
"hgvs_p": null,
"transcript": "ENST00000324331.10",
"protein_id": "ENSP00000316335.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1692,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27615G>T",
"hgvs_p": null,
"transcript": "NM_001318872.2",
"protein_id": "NP_001305801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1883,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+26855G>T",
"hgvs_p": null,
"transcript": "NM_001374875.1",
"protein_id": "NP_001361804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2137,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+16484G>T",
"hgvs_p": null,
"transcript": "NM_001374876.1",
"protein_id": "NP_001361805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+16484G>T",
"hgvs_p": null,
"transcript": "NM_001374877.1",
"protein_id": "NP_001361806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2201,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27582G>T",
"hgvs_p": null,
"transcript": "NM_001374878.1",
"protein_id": "NP_001361807.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1916,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+23895G>T",
"hgvs_p": null,
"transcript": "NM_001374879.1",
"protein_id": "NP_001361808.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+21450G>T",
"hgvs_p": null,
"transcript": "NM_001375257.1",
"protein_id": "NP_001362186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "c.-22+27313G>T",
"hgvs_p": null,
"transcript": "NM_001375258.1",
"protein_id": "NP_001362187.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "FARS2",
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},
{
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-341+27313G>T",
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},
{
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-22+16484G>T",
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"transcript": "ENST00000602691.1",
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},
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],
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},
{
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-22+39020G>T",
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},
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-22+27313G>T",
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},
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-22+27313G>T",
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"transcript": "XM_011514248.4",
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],
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"gene_symbol": "FARS2",
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"hgvs_c": "c.-22+27313G>T",
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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": "FARS2",
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"hgvs_c": "c.-22+27615G>T",
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"transcript": "XM_047418087.1",
"protein_id": "XP_047274043.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "FARS2",
"gene_hgnc_id": 21062,
"hgvs_c": "n.212+16484G>T",
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"transcript": "XR_007059196.1",
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},
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{
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}
],
"message": null
}