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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: 5-131961786-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=131961786&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 131961786,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000651883.2",
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1857+749A>T",
"hgvs_p": null,
"transcript": "NM_001009185.3",
"protein_id": "NP_001009185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": "ENST00000651883.2",
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1857+749A>T",
"hgvs_p": null,
"transcript": "ENST00000651883.2",
"protein_id": "ENSP00000499063.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": "NM_001009185.3",
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1827+749A>T",
"hgvs_p": null,
"transcript": "ENST00000543479.5",
"protein_id": "ENSP00000442124.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2139,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1815+749A>T",
"hgvs_p": null,
"transcript": "ENST00000379246.5",
"protein_id": "ENSP00000368548.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1752+749A>T",
"hgvs_p": null,
"transcript": "ENST00000434099.6",
"protein_id": "ENSP00000397507.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2114,
"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": 17,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1557+749A>T",
"hgvs_p": null,
"transcript": "ENST00000379255.5",
"protein_id": "ENSP00000368557.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ENSG00000281938",
"gene_hgnc_id": null,
"hgvs_c": "n.1857+749A>T",
"hgvs_p": null,
"transcript": "ENST00000652469.1",
"protein_id": "ENSP00000498837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2600,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1857+749A>T",
"hgvs_p": null,
"transcript": "NM_015256.4",
"protein_id": "NP_056071.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6535,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1857+749A>T",
"hgvs_p": null,
"transcript": "ENST00000651356.1",
"protein_id": "ENSP00000498260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": -4,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
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"cdna_length": 6535,
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1851+749A>T",
"hgvs_p": null,
"transcript": "NM_001405475.1",
"protein_id": "NP_001392404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 19,
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"gene_symbol": "ACSL6",
"gene_hgnc_id": 16496,
"hgvs_c": "c.1851+749A>T",
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"transcript": "ENST00000650697.1",
"protein_id": "ENSP00000498444.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1827+749A>T",
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},
{
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"consequences": [
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],
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"gene_symbol": "ACSL6",
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"transcript": "NM_001405477.1",
"protein_id": "NP_001392406.1",
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},
{
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],
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1821+749A>T",
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"transcript": "ENST00000296869.9",
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},
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],
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"intron_rank": 18,
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1815+749A>T",
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"transcript": "NM_001205250.1",
"protein_id": "NP_001192179.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1815+749A>T",
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"transcript": "NM_001405478.1",
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},
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],
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1782+749A>T",
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"transcript": "NM_001205248.2",
"protein_id": "NP_001192177.1",
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},
{
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],
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"intron_rank": 18,
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1782+749A>T",
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"transcript": "NM_001405479.1",
"protein_id": "NP_001392408.1",
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},
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"strand": false,
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],
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1782+749A>T",
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"transcript": "NM_001405480.1",
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],
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},
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],
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"gene_symbol": "ACSL6",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ACSL6",
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"hgvs_c": "c.1782+749A>T",
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"transcript": "NM_001405483.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ACSL6",
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"hgvs_c": "c.1782+749A>T",
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{
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}
],
"message": null
}