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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: 8-144360355-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144360355&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144360355,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000643944.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001363118.2",
"protein_id": "NP_001350047.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": "ENST00000643944.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000643944.2",
"protein_id": "ENSP00000496184.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": "NM_001363118.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000329994.7",
"protein_id": "ENSP00000333638.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001253815.2",
"protein_id": "NP_001240744.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001253816.2",
"protein_id": "NP_001240745.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001363120.2",
"protein_id": "NP_001350049.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001363121.2",
"protein_id": "NP_001350050.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001438495.1",
"protein_id": "NP_001425424.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 1989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001438496.1",
"protein_id": "NP_001425425.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_001438497.1",
"protein_id": "NP_001425426.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "NM_024531.5",
"protein_id": "NP_078807.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000402965.5",
"protein_id": "ENSP00000385961.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000527078.6",
"protein_id": "ENSP00000434728.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000530047.5",
"protein_id": "ENSP00000435820.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
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"cdna_start": 1027,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000532815.2",
"protein_id": "ENSP00000501933.1",
"transcript_support_level": 4,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000533662.2",
"protein_id": "ENSP00000502274.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
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"cdna_start": 1562,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000534725.6",
"protein_id": "ENSP00000431965.2",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000674870.1",
"protein_id": "ENSP00000502406.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000675121.1",
"protein_id": "ENSP00000501993.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000675280.1",
"protein_id": "ENSP00000502796.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
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"cdna_start": 1147,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000675292.1",
"protein_id": "ENSP00000502652.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu",
"transcript": "ENST00000675888.1",
"protein_id": "ENSP00000502294.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
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"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000643944.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.863C>A",
"hgvs_p": "p.Ala288Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}