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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: 2-233772281-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=233772281&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 233772281,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000373409.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A4",
"gene_hgnc_id": 12536,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "NM_007120.3",
"protein_id": "NP_009051.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "ENST00000373409.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A5",
"gene_hgnc_id": 12537,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "NM_019078.2",
"protein_id": "NP_061951.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "ENST00000373414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A3",
"gene_hgnc_id": 12535,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "NM_019093.4",
"protein_id": "NP_061966.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "ENST00000482026.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A4",
"gene_hgnc_id": 12536,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "ENST00000373409.8",
"protein_id": "ENSP00000362508.4",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "NM_007120.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A5",
"gene_hgnc_id": 12537,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "ENST00000373414.4",
"protein_id": "ENSP00000362513.3",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "NM_019078.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A3",
"gene_hgnc_id": 12535,
"hgvs_c": "c.1327C>A",
"hgvs_p": "p.Arg443Ser",
"transcript": "ENST00000482026.6",
"protein_id": "ENSP00000418532.1",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 534,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": "NM_019093.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A1",
"gene_hgnc_id": 12530,
"hgvs_c": "c.1324C>A",
"hgvs_p": "p.Arg442Ser",
"transcript": "NM_000463.3",
"protein_id": "NP_000454.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 533,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": "ENST00000305208.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A1",
"gene_hgnc_id": 12530,
"hgvs_c": "c.1324C>A",
"hgvs_p": "p.Arg442Ser",
"transcript": "ENST00000305208.10",
"protein_id": "ENSP00000304845.5",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 533,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": "NM_000463.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A6",
"gene_hgnc_id": 12538,
"hgvs_c": "c.1321C>A",
"hgvs_p": "p.Arg441Ser",
"transcript": "NM_001072.4",
"protein_id": "NP_001063.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": "ENST00000305139.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A6",
"gene_hgnc_id": 12538,
"hgvs_c": "c.1321C>A",
"hgvs_p": "p.Arg441Ser",
"transcript": "ENST00000305139.11",
"protein_id": "ENSP00000303174.6",
"transcript_support_level": 1,
"aa_start": 441,
"aa_end": null,
"aa_length": 532,
"cds_start": 1321,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": "NM_001072.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "NM_019075.4",
"protein_id": "NP_061948.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "ENST00000344644.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A8",
"gene_hgnc_id": 12540,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "NM_019076.5",
"protein_id": "NP_061949.3",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "ENST00000373450.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A7",
"gene_hgnc_id": 12539,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "NM_019077.3",
"protein_id": "NP_061950.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": "ENST00000373426.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A9",
"gene_hgnc_id": 12541,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "NM_021027.3",
"protein_id": "NP_066307.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": "ENST00000354728.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A10",
"gene_hgnc_id": 12531,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "ENST00000344644.10",
"protein_id": "ENSP00000343838.5",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "NM_019075.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A9",
"gene_hgnc_id": 12541,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "ENST00000354728.5",
"protein_id": "ENSP00000346768.4",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": "NM_021027.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A7",
"gene_hgnc_id": 12539,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "ENST00000373426.4",
"protein_id": "ENSP00000362525.3",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": "NM_019077.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A8",
"gene_hgnc_id": 12540,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "ENST00000373450.5",
"protein_id": "ENSP00000362549.4",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 530,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": "NM_019076.5",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A4",
"gene_hgnc_id": 12536,
"hgvs_c": "n.*123C>A",
"hgvs_p": null,
"transcript": "ENST00000450233.1",
"protein_id": "ENSP00000408608.1",
"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": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A4",
"gene_hgnc_id": 12536,
"hgvs_c": "n.*123C>A",
"hgvs_p": null,
"transcript": "ENST00000450233.1",
"protein_id": "ENSP00000408608.1",
"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": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A6",
"gene_hgnc_id": 12538,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "NM_205862.3",
"protein_id": "NP_995584.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 265,
"cds_start": 520,
"cds_end": null,
"cds_length": 798,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGT1A6",
"gene_hgnc_id": 12538,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "ENST00000373424.5",
"protein_id": "ENSP00000362523.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 265,
"cds_start": 520,
"cds_end": null,
"cds_length": 798,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1128,
"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"
],
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}
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{
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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{
"score": 2,
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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{
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{
"score": 2,
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],
"clinvar_disease": "",
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"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}