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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: 16-19069336-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=19069336&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 19069336,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000321998.10",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.73+1599T>G",
"hgvs_p": null,
"transcript": "NM_016138.5",
"protein_id": "NP_057222.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": "ENST00000321998.10",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.73+1599T>G",
"hgvs_p": null,
"transcript": "ENST00000321998.10",
"protein_id": "ENSP00000322316.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": "NM_016138.5",
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.-42+1328T>G",
"hgvs_p": null,
"transcript": "ENST00000544894.6",
"protein_id": "ENSP00000442923.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 819,
"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": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.73+1599T>G",
"hgvs_p": null,
"transcript": "ENST00000568985.5",
"protein_id": "ENSP00000456734.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.31+458T>G",
"hgvs_p": null,
"transcript": "NM_001370489.1",
"protein_id": "NP_001357418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.73+1599T>G",
"hgvs_p": null,
"transcript": "NM_001370490.1",
"protein_id": "NP_001357419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2573,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.4+458T>G",
"hgvs_p": null,
"transcript": "ENST00000569127.1",
"protein_id": "ENSP00000455122.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2575,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.31+458T>G",
"hgvs_p": null,
"transcript": "NM_001370491.1",
"protein_id": "NP_001357420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2681,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.-42+1328T>G",
"hgvs_p": null,
"transcript": "NM_001190983.2",
"protein_id": "NP_001177912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2620,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.-42+1106T>G",
"hgvs_p": null,
"transcript": "NM_001370492.1",
"protein_id": "NP_001357421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 179,
"cds_start": -4,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
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"cdna_length": 2732,
"mane_select": null,
"mane_plus": null,
"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": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.-42+1140T>G",
"hgvs_p": null,
"transcript": "NM_001370493.1",
"protein_id": "NP_001357422.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 179,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "COQ7",
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"hgvs_c": "c.-42+1506T>G",
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"transcript": "NM_001370494.1",
"protein_id": "NP_001357423.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "COQ7",
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"hgvs_c": "c.-42+1328T>G",
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"transcript": "NM_001370495.1",
"protein_id": "NP_001357424.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.-42+1106T>G",
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"transcript": "ENST00000561858.5",
"protein_id": "ENSP00000457256.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "COQ7",
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"hgvs_c": "c.-186+1599T>G",
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"transcript": "ENST00000566110.5",
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"mane_plus": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "COQ7",
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"hgvs_c": "n.92+1599T>G",
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"transcript": "ENST00000564746.1",
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},
{
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],
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"gene_symbol": "COQ7",
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"hgvs_c": "n.73+1599T>G",
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"transcript": "ENST00000566049.5",
"protein_id": "ENSP00000456490.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "COQ7",
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"hgvs_c": "n.73+1599T>G",
"hgvs_p": null,
"transcript": "ENST00000569312.5",
"protein_id": "ENSP00000459076.1",
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7-DT",
"gene_hgnc_id": 55362,
"hgvs_c": "n.357-6441A>C",
"hgvs_p": null,
"transcript": "ENST00000774567.1",
"protein_id": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "COQ7",
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"hgvs_c": "n.124+1599T>G",
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},
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"strand": true,
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],
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"intron_rank": 1,
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"hgvs_c": "n.102+1328T>G",
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "n.124+1599T>G",
"hgvs_p": null,
"transcript": "NR_163450.1",
"protein_id": 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,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COQ7",
"gene_hgnc_id": 2244,
"hgvs_c": "c.73+1599T>G",
"hgvs_p": null,
"transcript": "XM_047433494.1",
"protein_id": "XP_047289450.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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{
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}
],
"message": null
}