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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: 2-63886482-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63886482&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63886482,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006759.4",
"consequences": [
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "NM_006759.4",
"protein_id": "NP_006750.3",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 508,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "ENST00000337130.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006759.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000337130.10",
"protein_id": "ENSP00000338703.5",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 508,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "NM_006759.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337130.10"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "ENST00000394417.7",
"protein_id": "ENSP00000377939.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394417.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "ENST00000467648.6",
"protein_id": "ENSP00000420793.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467648.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.1114G>C",
"hgvs_p": null,
"transcript": "ENST00000475550.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475550.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1108G>C",
"hgvs_p": "p.Val370Leu",
"transcript": "ENST00000866557.1",
"protein_id": "ENSP00000536616.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 539,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866557.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1042G>C",
"hgvs_p": "p.Val348Leu",
"transcript": "ENST00000445915.6",
"protein_id": "ENSP00000411803.2",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 517,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445915.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000866555.1",
"protein_id": "ENSP00000536614.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 508,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866555.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "NM_001001521.2",
"protein_id": "NP_001001521.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001521.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "NM_001377524.1",
"protein_id": "NP_001364453.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377524.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "NM_001377525.1",
"protein_id": "NP_001364454.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377525.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Val303Leu",
"transcript": "ENST00000866559.1",
"protein_id": "ENSP00000536618.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 472,
"cds_start": 907,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866559.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "ENST00000613823.2",
"protein_id": "ENSP00000482043.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 463,
"cds_start": 982,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613823.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Val291Leu",
"transcript": "ENST00000677841.1",
"protein_id": "ENSP00000502898.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 460,
"cds_start": 871,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677841.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.1015G>C",
"hgvs_p": "p.Val339Leu",
"transcript": "ENST00000866556.1",
"protein_id": "ENSP00000536615.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 427,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866556.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Val219Leu",
"transcript": "NM_001377526.1",
"protein_id": "NP_001364455.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 388,
"cds_start": 655,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377526.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Val219Leu",
"transcript": "NM_001377527.1",
"protein_id": "NP_001364456.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 388,
"cds_start": 655,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377527.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Val219Leu",
"transcript": "NM_001377528.1",
"protein_id": "NP_001364457.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 388,
"cds_start": 655,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377528.1"
},
{
"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": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Val219Leu",
"transcript": "NM_001377529.1",
"protein_id": "NP_001364458.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 388,
"cds_start": 655,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377529.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.982G>C",
"hgvs_p": "p.Val328Leu",
"transcript": "XM_024453120.2",
"protein_id": "XP_024308888.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 497,
"cds_start": 982,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453120.2"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.873+596G>C",
"hgvs_p": null,
"transcript": "ENST00000866558.1",
"protein_id": "ENSP00000536617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866558.1"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.256-920G>C",
"hgvs_p": null,
"transcript": "ENST00000934101.1",
"protein_id": "ENSP00000604160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
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}
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}