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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: 19-50358606-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50358606&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50358606,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004851.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"transcript": "NM_004851.3",
"protein_id": "NP_004842.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 420,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253719.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004851.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"transcript": "ENST00000253719.7",
"protein_id": "ENSP00000253719.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 420,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004851.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253719.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Arg408Cys",
"transcript": "ENST00000852689.1",
"protein_id": "ENSP00000522748.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 424,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852689.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1210C>T",
"hgvs_p": "p.Arg404Cys",
"transcript": "NM_001436336.1",
"protein_id": "NP_001423265.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 420,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436336.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Arg402Cys",
"transcript": "ENST00000852687.1",
"protein_id": "ENSP00000522746.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 418,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852687.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1195C>T",
"hgvs_p": "p.Arg399Cys",
"transcript": "ENST00000967940.1",
"protein_id": "ENSP00000637999.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 415,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967940.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1186C>T",
"hgvs_p": "p.Arg396Cys",
"transcript": "ENST00000967942.1",
"protein_id": "ENSP00000638001.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 412,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967942.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"transcript": "ENST00000598915.6",
"protein_id": "ENSP00000469061.2",
"transcript_support_level": 3,
"aa_start": 395,
"aa_end": null,
"aa_length": 411,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598915.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393Cys",
"transcript": "ENST00000852690.1",
"protein_id": "ENSP00000522749.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 409,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852690.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1168C>T",
"hgvs_p": "p.Arg390Cys",
"transcript": "ENST00000852686.1",
"protein_id": "ENSP00000522745.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 406,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852686.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000967941.1",
"protein_id": "ENSP00000638000.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 379,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967941.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Arg357Cys",
"transcript": "ENST00000852688.1",
"protein_id": "ENSP00000522747.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 373,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852688.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Cys",
"transcript": "ENST00000852691.1",
"protein_id": "ENSP00000522750.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 339,
"cds_start": 967,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852691.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"transcript": "XM_017027512.2",
"protein_id": "XP_016883001.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 411,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027512.2"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR1H2",
"gene_hgnc_id": 7965,
"hgvs_c": "c.-1424G>A",
"hgvs_p": null,
"transcript": "ENST00000652203.1",
"protein_id": "ENSP00000499121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652203.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "c.*846C>T",
"hgvs_p": null,
"transcript": "NM_001436337.1",
"protein_id": "NP_001423266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001436337.1"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NR1H2",
"gene_hgnc_id": 7965,
"hgvs_c": "c.-242-14265G>A",
"hgvs_p": null,
"transcript": "ENST00000939061.1",
"protein_id": "ENSP00000609120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939061.1"
},
{
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NR1H2",
"gene_hgnc_id": 7965,
"hgvs_c": "c.-243+6000G>A",
"hgvs_p": null,
"transcript": "ENST00000939062.1",
"protein_id": "ENSP00000609121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939062.1"
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H2",
"gene_hgnc_id": 7965,
"hgvs_c": "c.-243+6000G>A",
"hgvs_p": null,
"transcript": "ENST00000852420.1",
"protein_id": "ENSP00000522479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": null,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852420.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NR1H2",
"gene_hgnc_id": 7965,
"hgvs_c": "c.-242-14265G>A",
"hgvs_p": null,
"transcript": "ENST00000600355.5",
"protein_id": "ENSP00000473099.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": null,
"cds_end": null,
"cds_length": 122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600355.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "n.386C>T",
"hgvs_p": null,
"transcript": "ENST00000598044.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPSA",
"gene_hgnc_id": 13395,
"hgvs_c": "n.3160C>T",
"hgvs_p": null,
"transcript": "ENST00000599181.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000599181.1"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}