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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: 12-69677113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69677113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69677113,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_032735.3",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "NM_032735.3",
"protein_id": "NP_116124.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000330891.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032735.3"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "ENST00000330891.10",
"protein_id": "ENSP00000332413.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032735.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330891.10"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.397-45G>A",
"hgvs_p": null,
"transcript": "ENST00000553096.5",
"protein_id": "ENSP00000449548.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553096.5"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.228+67G>A",
"hgvs_p": null,
"transcript": "ENST00000488961.5",
"protein_id": "ENSP00000433213.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488961.5"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "ENST00000331471.8",
"protein_id": "ENSP00000329064.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331471.8"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "ENST00000944745.1",
"protein_id": "ENSP00000614804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944745.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.397-45G>A",
"hgvs_p": null,
"transcript": "NM_001282613.2",
"protein_id": "NP_001269542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": null,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282613.2"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.228+67G>A",
"hgvs_p": null,
"transcript": "NM_152439.4",
"protein_id": "NP_689652.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": null,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152439.4"
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "NM_001282614.2",
"protein_id": "NP_001269543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282614.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.228+67G>A",
"hgvs_p": null,
"transcript": "ENST00000476098.5",
"protein_id": "ENSP00000434713.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 197,
"cds_start": null,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476098.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.396+67G>A",
"hgvs_p": null,
"transcript": "ENST00000552295.5",
"protein_id": "ENSP00000447689.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
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"cds_length": 484,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552295.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.397-45G>A",
"hgvs_p": null,
"transcript": "XM_011537961.2",
"protein_id": "XP_011536263.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537961.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.397-45G>A",
"hgvs_p": null,
"transcript": "XM_047428376.1",
"protein_id": "XP_047284332.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "BEST3",
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"hgvs_c": "c.229-45G>A",
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"transcript": "XM_011537962.3",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.229-45G>A",
"hgvs_p": null,
"transcript": "XM_011537963.2",
"protein_id": "XP_011536265.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011537963.2"
},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.229-45G>A",
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"transcript": "XM_047428378.1",
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},
{
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],
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.229-45G>A",
"hgvs_p": null,
"transcript": "XM_047428379.1",
"protein_id": "XP_047284335.1",
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"biotype": "protein_coding",
"feature": "XM_047428379.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "XM_047428380.1",
"protein_id": "XP_047284336.1",
"transcript_support_level": null,
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"cds_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "c.715-45G>A",
"hgvs_p": null,
"transcript": "XM_047428381.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BEST3",
"gene_hgnc_id": 17105,
"hgvs_c": "n.330+67G>A",
"hgvs_p": null,
"transcript": "ENST00000547208.5",
"protein_id": "ENSP00000449868.1",
"transcript_support_level": 5,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547208.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305711",
"gene_hgnc_id": null,
"hgvs_c": "n.492-29820C>T",
"hgvs_p": null,
"transcript": "ENST00000812541.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000812541.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305711",
"gene_hgnc_id": null,
"hgvs_c": "n.474-13628C>T",
"hgvs_p": null,
"transcript": "ENST00000812542.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000812542.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305711",
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}