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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: 11-62885502-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62885502&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62885502,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338663.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "NM_001013251.3",
"protein_id": "NP_001013269.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "ENST00000338663.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000338663.12",
"protein_id": "ENSP00000340815.7",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "NM_001013251.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "ENST00000377890.6",
"protein_id": "ENSP00000367122.2",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 630,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "ENST00000377889.6",
"protein_id": "ENSP00000367121.2",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 568,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.791C>T",
"hgvs_p": "p.Ala264Val",
"transcript": "ENST00000539891.6",
"protein_id": "ENSP00000438353.2",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 447,
"cds_start": 791,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 1554,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "n.931C>T",
"hgvs_p": null,
"transcript": "ENST00000538682.6",
"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": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Ala478Val",
"transcript": "ENST00000538084.2",
"protein_id": "ENSP00000440001.2",
"transcript_support_level": 3,
"aa_start": 478,
"aa_end": null,
"aa_length": 661,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1412C>T",
"hgvs_p": "p.Ala471Val",
"transcript": "ENST00000681569.1",
"protein_id": "ENSP00000506498.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 654,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Ala448Val",
"transcript": "NM_001012662.3",
"protein_id": "NP_001012680.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 631,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1343C>T",
"hgvs_p": "p.Ala448Val",
"transcript": "ENST00000377891.6",
"protein_id": "ENSP00000367123.2",
"transcript_support_level": 2,
"aa_start": 448,
"aa_end": null,
"aa_length": 631,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "NM_002394.6",
"protein_id": "NP_002385.3",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 630,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1319C>T",
"hgvs_p": "p.Ala440Val",
"transcript": "ENST00000681467.1",
"protein_id": "ENSP00000506217.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 623,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Ala433Val",
"transcript": "ENST00000680725.1",
"protein_id": "ENSP00000505585.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 616,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1259C>T",
"hgvs_p": "p.Ala420Val",
"transcript": "ENST00000680729.1",
"protein_id": "ENSP00000505639.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 603,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1247C>T",
"hgvs_p": "p.Ala416Val",
"transcript": "ENST00000535296.5",
"protein_id": "ENSP00000444236.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 599,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1154C>T",
"hgvs_p": "p.Ala385Val",
"transcript": "NM_001012664.3",
"protein_id": "NP_001012682.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 568,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1049C>T",
"hgvs_p": "p.Ala350Val",
"transcript": "ENST00000681232.1",
"protein_id": "ENSP00000506460.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000544377.2",
"protein_id": "ENSP00000442135.2",
"transcript_support_level": 4,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000680631.1",
"protein_id": "ENSP00000506006.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000681657.1",
"protein_id": "ENSP00000505110.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 529,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val",
"transcript": "ENST00000680297.1",
"protein_id": "ENSP00000506230.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 415,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
"hgvs_c": "c.650C>T",
"hgvs_p": "p.Ala217Val",
"transcript": "ENST00000536981.6",
"protein_id": "ENSP00000444439.2",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 400,
"cds_start": 650,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC3A2",
"gene_hgnc_id": 11026,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000338663.12",
"gene_symbol": "SLC3A2",
"hgnc_id": 11026,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Ala346Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}