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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: 1-46341925-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46341925&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46341925,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000474844.6",
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_199044.4",
"protein_id": "NP_950245.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "ENST00000474844.6",
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "ENST00000474844.6",
"protein_id": "ENSP00000419740.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": "NM_199044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.93+1006G>T",
"hgvs_p": null,
"transcript": "ENST00000307089.7",
"protein_id": "ENSP00000471937.1",
"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": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.82G>T",
"hgvs_p": "p.Gly28*",
"transcript": "ENST00000498008.5",
"protein_id": "ENSP00000478740.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 652,
"cds_start": 82,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 3867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.716G>T",
"hgvs_p": null,
"transcript": "NR_170618.1",
"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": 7403,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387265.1",
"protein_id": "NP_001374194.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4344,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387266.1",
"protein_id": "NP_001374195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2455,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387267.1",
"protein_id": "NP_001374196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4275,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387268.1",
"protein_id": "NP_001374197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": -4,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1472,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.-55+60G>T",
"hgvs_p": null,
"transcript": "NM_001256127.3",
"protein_id": "NP_001243056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4922,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.-55+428G>T",
"hgvs_p": null,
"transcript": "NM_001256128.3",
"protein_id": "NP_001243057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4554,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387269.1",
"protein_id": "NP_001374198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
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"cds_length": 1008,
"cdna_start": null,
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"cdna_length": 1858,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.-55+60G>T",
"hgvs_p": null,
"transcript": "ENST00000537428.2",
"protein_id": "ENSP00000437758.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2087,
"mane_select": null,
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"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387270.1",
"protein_id": "NP_001374199.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "NSUN4",
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"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387271.1",
"protein_id": "NP_001374200.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 300,
"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": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.93+1006G>T",
"hgvs_p": null,
"transcript": "NM_001387272.1",
"protein_id": "NP_001374201.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "c.-125+428G>T",
"hgvs_p": null,
"transcript": "ENST00000718455.1",
"protein_id": "ENSP00000520833.1",
"transcript_support_level": null,
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"aa_length": 210,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.268+428G>T",
"hgvs_p": null,
"transcript": "ENST00000469918.5",
"protein_id": "ENSP00000478949.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.93+1006G>T",
"hgvs_p": null,
"transcript": "ENST00000486270.5",
"protein_id": "ENSP00000483680.1",
"transcript_support_level": 3,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.288+428G>T",
"hgvs_p": null,
"transcript": "NR_045789.2",
"protein_id": null,
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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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.113+1006G>T",
"hgvs_p": null,
"transcript": "NR_045790.2",
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},
{
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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": 1,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.113+1006G>T",
"hgvs_p": null,
"transcript": "NR_045791.2",
"protein_id": null,
"transcript_support_level": null,
"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,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NSUN4",
"gene_hgnc_id": 31802,
"hgvs_c": "n.288+428G>T",
"hgvs_p": null,
"transcript": "NR_170617.1",
"protein_id": null,
"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": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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}
],
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}