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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: 22-26483980-G-GGAGGCGGCGCCCCGGGGGAGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26483980&ref=G&alt=GGAGGCGGCGCCCCGGGGGAGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26483980,
"ref": "G",
"alt": "GGAGGCGGCGCCCCGGGGGAGA",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000215917.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "GREAAPRG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRD",
"gene_hgnc_id": 33910,
"hgvs_c": "c.129_149dupGAGAGAGGCGGCGCCCCGGGG",
"hgvs_p": "p.Gly50_Pro51insArgGluAlaAlaProArgGly",
"transcript": "NM_001013694.3",
"protein_id": "NP_001013716.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 339,
"cds_start": 150,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "ENST00000215917.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GREAAPRG",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRD",
"gene_hgnc_id": 33910,
"hgvs_c": "c.129_149dupGAGAGAGGCGGCGCCCCGGGG",
"hgvs_p": "p.Gly50_Pro51insArgGluAlaAlaProArgGly",
"transcript": "ENST00000215917.11",
"protein_id": "ENSP00000215917.6",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 339,
"cds_start": 150,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": "NM_001013694.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "GREAAPRG",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRD",
"gene_hgnc_id": 33910,
"hgvs_c": "c.129_149dupGAGAGAGGCGGCGCCCCGGGG",
"hgvs_p": "p.Gly50_Pro51insArgGluAlaAlaProArgGly",
"transcript": "XM_017028799.3",
"protein_id": "XP_016884288.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 226,
"cds_start": 150,
"cds_end": null,
"cds_length": 681,
"cdna_start": 164,
"cdna_end": null,
"cdna_length": 3865,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRD",
"gene_hgnc_id": 33910,
"hgvs_c": "c.-131_-111dupGAGAGAGGCGGCGCCCCGGGG",
"hgvs_p": null,
"transcript": "XM_011530178.3",
"protein_id": "XP_011528480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4066,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.-806_-786dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "NM_022081.6",
"protein_id": "NP_071364.4",
"transcript_support_level": null,
"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": 5066,
"mane_select": "ENST00000398145.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.-806_-786dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "ENST00000398145.7",
"protein_id": "ENSP00000381213.2",
"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": 5066,
"mane_select": "NM_022081.6",
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.-715_-695dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "ENST00000439453.5",
"protein_id": "ENSP00000406764.1",
"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": 3936,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "n.-164_-144dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "ENST00000466781.5",
"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": 6136,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.-806_-786dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "NM_001349900.2",
"protein_id": "NP_001336829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": -4,
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"cds_length": 2181,
"cdna_start": null,
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"cdna_length": 5120,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.-715_-695dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "NM_001349901.1",
"protein_id": "NP_001336830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"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,
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "HPS4",
"gene_hgnc_id": 15844,
"hgvs_c": "c.-715_-695dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "ENST00000422379.3",
"protein_id": "ENSP00000415081.3",
"transcript_support_level": 5,
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"cds_start": -4,
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},
{
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "HPS4",
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"hgvs_c": "c.-715_-695dupTCTCCCCCGGGGCGCCGCCTC",
"hgvs_p": null,
"transcript": "NM_001349896.1",
"protein_id": "NP_001336825.1",
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},
{
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],
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"gene_symbol": "HPS4",
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"protein_id": "NP_001336827.1",
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},
{
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],
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},
{
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],
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},
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],
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],
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},
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],
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"gene_symbol": "HPS4",
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},
{
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],
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"gene_symbol": "HPS4",
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},
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}