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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: 2-53808371-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=53808371&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 53808371,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000185150.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "NM_015701.5",
"protein_id": "NP_056516.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 483,
"cds_start": 952,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "ENST00000185150.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000185150.9",
"protein_id": "ENSP00000185150.4",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 483,
"cds_start": 952,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": "NM_015701.5",
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.880-843G>C",
"hgvs_p": null,
"transcript": "ENST00000378239.5",
"protein_id": "ENSP00000367485.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.946G>C",
"hgvs_p": "p.Val316Leu",
"transcript": "ENST00000691853.1",
"protein_id": "ENSP00000509585.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 481,
"cds_start": 946,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000689496.1",
"protein_id": "ENSP00000509814.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 473,
"cds_start": 952,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "NM_001127397.3",
"protein_id": "NP_001120869.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 457,
"cds_start": 952,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000405123.7",
"protein_id": "ENSP00000385629.3",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 457,
"cds_start": 952,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000690836.1",
"protein_id": "ENSP00000509407.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 455,
"cds_start": 952,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.775G>C",
"hgvs_p": "p.Val259Leu",
"transcript": "ENST00000687723.1",
"protein_id": "ENSP00000510385.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 424,
"cds_start": 775,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Val318Leu",
"transcript": "ENST00000688464.1",
"protein_id": "ENSP00000510214.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 410,
"cds_start": 952,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 3317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.664G>C",
"hgvs_p": "p.Val222Leu",
"transcript": "ENST00000689291.1",
"protein_id": "ENSP00000509043.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 387,
"cds_start": 664,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Val200Leu",
"transcript": "ENST00000685400.1",
"protein_id": "ENSP00000510705.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 365,
"cds_start": 598,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Val196Leu",
"transcript": "ENST00000690280.1",
"protein_id": "ENSP00000509463.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 361,
"cds_start": 586,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "c.421G>C",
"hgvs_p": "p.Val141Leu",
"transcript": "ENST00000688274.1",
"protein_id": "ENSP00000510135.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 306,
"cds_start": 421,
"cds_end": null,
"cds_length": 921,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1925,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.948G>C",
"hgvs_p": null,
"transcript": "ENST00000684875.1",
"protein_id": "ENSP00000509804.1",
"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": 2471,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.1154G>C",
"hgvs_p": null,
"transcript": "ENST00000685508.1",
"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": 2719,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.*179G>C",
"hgvs_p": null,
"transcript": "ENST00000686424.1",
"protein_id": "ENSP00000509520.1",
"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": 2232,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.1154G>C",
"hgvs_p": null,
"transcript": "ENST00000687536.1",
"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": 4188,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.1154G>C",
"hgvs_p": null,
"transcript": "ENST00000688096.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3949,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.952G>C",
"hgvs_p": null,
"transcript": "ENST00000688147.1",
"protein_id": "ENSP00000509881.1",
"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": 2482,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.952G>C",
"hgvs_p": null,
"transcript": "ENST00000689106.1",
"protein_id": "ENSP00000510585.1",
"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": 2714,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.1174G>C",
"hgvs_p": null,
"transcript": "ENST00000689230.1",
"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": 3898,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERLEC1",
"gene_hgnc_id": 25222,
"hgvs_c": "n.*814G>C",
"hgvs_p": null,
"transcript": "ENST00000689943.1",
"protein_id": "ENSP00000509110.1",
"transcript_support_level": null,
"aa_start": null,
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{
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}
],
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}