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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: 19-4523854-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4523854&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4523854,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001013706.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "NM_001013706.3",
"protein_id": "NP_001013728.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381848.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013706.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000381848.7",
"protein_id": "ENSP00000371272.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001013706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381848.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1303G>A",
"hgvs_p": "p.Ala435Thr",
"transcript": "ENST00000905186.1",
"protein_id": "ENSP00000575245.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 542,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905186.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Ala423Thr",
"transcript": "ENST00000905182.1",
"protein_id": "ENSP00000575241.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 530,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905182.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Ala396Thr",
"transcript": "ENST00000942350.1",
"protein_id": "ENSP00000612409.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 503,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942350.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Ala396Thr",
"transcript": "ENST00000942352.1",
"protein_id": "ENSP00000612411.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 503,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942352.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Ala391Thr",
"transcript": "ENST00000942351.1",
"protein_id": "ENSP00000612410.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 498,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942351.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1150G>A",
"hgvs_p": "p.Ala384Thr",
"transcript": "ENST00000905187.1",
"protein_id": "ENSP00000575246.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 491,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905187.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1132G>A",
"hgvs_p": "p.Ala378Thr",
"transcript": "ENST00000905193.1",
"protein_id": "ENSP00000575252.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 485,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905193.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Ala375Thr",
"transcript": "ENST00000905188.1",
"protein_id": "ENSP00000575247.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 482,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905188.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Ala368Thr",
"transcript": "ENST00000905183.1",
"protein_id": "ENSP00000575242.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 475,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905183.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Ala368Thr",
"transcript": "ENST00000942353.1",
"protein_id": "ENSP00000612412.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 475,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942353.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "ENST00000905184.1",
"protein_id": "ENSP00000575243.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 470,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905184.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "ENST00000905192.1",
"protein_id": "ENSP00000575251.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 470,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905192.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000905191.1",
"protein_id": "ENSP00000575250.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905191.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000905194.1",
"protein_id": "ENSP00000575253.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905194.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000905195.1",
"protein_id": "ENSP00000575254.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905195.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "ENST00000942355.1",
"protein_id": "ENSP00000612414.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 463,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942355.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Ala352Thr",
"transcript": "ENST00000905190.1",
"protein_id": "ENSP00000575249.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 459,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905190.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Ala324Thr",
"transcript": "ENST00000905185.1",
"protein_id": "ENSP00000575244.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 431,
"cds_start": 970,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905185.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Ala275Thr",
"transcript": "ENST00000942354.1",
"protein_id": "ENSP00000612413.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 382,
"cds_start": 823,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942354.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Ala263Thr",
"transcript": "ENST00000905189.1",
"protein_id": "ENSP00000575248.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 370,
"cds_start": 787,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "n.*55G>A",
"hgvs_p": null,
"transcript": "ENST00000589728.1",
"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": "ENST00000589728.1"
}
],
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"dbsnp": "rs575416554",
"frequency_reference_population": 0.000020486608,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000212791,
"gnomad_genomes_af": 0.0000131439,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08591577410697937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0846,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.816,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 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": "NM_001013706.3",
"gene_symbol": "PLIN5",
"hgnc_id": 33196,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}