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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: 11-62856025-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62856025&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62856025,
"ref": "G",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000680002.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000680002.1",
"protein_id": "ENSP00000506366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000680729.1",
"protein_id": "ENSP00000505639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 603,
"cds_start": -4,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000680002.1",
"protein_id": "ENSP00000506366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.196+224C>G",
"hgvs_p": null,
"transcript": "ENST00000742439.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000377890.6",
"protein_id": "ENSP00000367122.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": -4,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000377889.6",
"protein_id": "ENSP00000367121.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": -4,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-158C>G",
"hgvs_p": null,
"transcript": "ENST00000537925.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-136C>G",
"hgvs_p": null,
"transcript": "ENST00000540725.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000538084.2",
"protein_id": "ENSP00000440001.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": -4,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000681569.1",
"protein_id": "ENSP00000506498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": -4,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "NM_001012662.3",
"protein_id": "NP_001012680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
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"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000377891.6",
"protein_id": "ENSP00000367123.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": 631,
"cds_start": -4,
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"cds_length": 1896,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "NM_002394.6",
"protein_id": "NP_002385.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 630,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000681467.1",
"protein_id": "ENSP00000506217.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "SLC3A2",
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"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000680725.1",
"protein_id": "ENSP00000505585.1",
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"aa_start": 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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "ENST00000535296.5",
"protein_id": "ENSP00000444236.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.-245G>C",
"hgvs_p": null,
"transcript": "NM_001012664.3",
"protein_id": "NP_001012682.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-202C>G",
"hgvs_p": null,
"transcript": "ENST00000535076.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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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": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-139C>G",
"hgvs_p": null,
"transcript": "ENST00000535689.7",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "SNHG1",
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"hgvs_c": "n.-144C>G",
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"transcript": "ENST00000537068.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SNHG1",
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"hgvs_c": "n.-136C>G",
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"transcript": "ENST00000537869.8",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-140C>G",
"hgvs_p": null,
"transcript": "ENST00000538654.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"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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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG1",
"gene_hgnc_id": 32688,
"hgvs_c": "n.-138C>G",
"hgvs_p": null,
"transcript": "ENST00000539303.7",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 900,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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"verdict": "Likely_benign",
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{
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}
],
"message": null
}