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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: 19-4523930-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4523930&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4523930,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001013706.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "NM_001013706.3",
"protein_id": "NP_001013728.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "ENST00000381848.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013706.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "ENST00000381848.7",
"protein_id": "ENSP00000371272.2",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": "NM_001013706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381848.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1227C>G",
"hgvs_p": "p.Phe409Leu",
"transcript": "ENST00000905186.1",
"protein_id": "ENSP00000575245.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 542,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905186.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1191C>G",
"hgvs_p": "p.Phe397Leu",
"transcript": "ENST00000905182.1",
"protein_id": "ENSP00000575241.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 530,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905182.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1110C>G",
"hgvs_p": "p.Phe370Leu",
"transcript": "ENST00000942350.1",
"protein_id": "ENSP00000612409.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 503,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942350.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1110C>G",
"hgvs_p": "p.Phe370Leu",
"transcript": "ENST00000942352.1",
"protein_id": "ENSP00000612411.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 503,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942352.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1095C>G",
"hgvs_p": "p.Phe365Leu",
"transcript": "ENST00000942351.1",
"protein_id": "ENSP00000612410.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 498,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942351.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1074C>G",
"hgvs_p": "p.Phe358Leu",
"transcript": "ENST00000905187.1",
"protein_id": "ENSP00000575246.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 491,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905187.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1056C>G",
"hgvs_p": "p.Phe352Leu",
"transcript": "ENST00000905193.1",
"protein_id": "ENSP00000575252.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 485,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905193.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1047C>G",
"hgvs_p": "p.Phe349Leu",
"transcript": "ENST00000905188.1",
"protein_id": "ENSP00000575247.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 482,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905188.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1026C>G",
"hgvs_p": "p.Phe342Leu",
"transcript": "ENST00000905183.1",
"protein_id": "ENSP00000575242.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 475,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 2510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905183.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1026C>G",
"hgvs_p": "p.Phe342Leu",
"transcript": "ENST00000942353.1",
"protein_id": "ENSP00000612412.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 475,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942353.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1011C>G",
"hgvs_p": "p.Phe337Leu",
"transcript": "ENST00000905184.1",
"protein_id": "ENSP00000575243.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 470,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905184.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.1011C>G",
"hgvs_p": "p.Phe337Leu",
"transcript": "ENST00000905192.1",
"protein_id": "ENSP00000575251.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 470,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905192.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "ENST00000905191.1",
"protein_id": "ENSP00000575250.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905191.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "ENST00000905194.1",
"protein_id": "ENSP00000575253.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905194.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "ENST00000905195.1",
"protein_id": "ENSP00000575254.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 2000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905195.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.990C>G",
"hgvs_p": "p.Phe330Leu",
"transcript": "ENST00000942355.1",
"protein_id": "ENSP00000612414.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 463,
"cds_start": 990,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942355.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.978C>G",
"hgvs_p": "p.Phe326Leu",
"transcript": "ENST00000905190.1",
"protein_id": "ENSP00000575249.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 459,
"cds_start": 978,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905190.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.894C>G",
"hgvs_p": "p.Phe298Leu",
"transcript": "ENST00000905185.1",
"protein_id": "ENSP00000575244.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 431,
"cds_start": 894,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905185.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.747C>G",
"hgvs_p": "p.Phe249Leu",
"transcript": "ENST00000942354.1",
"protein_id": "ENSP00000612413.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 382,
"cds_start": 747,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942354.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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.711C>G",
"hgvs_p": "p.Phe237Leu",
"transcript": "ENST00000905189.1",
"protein_id": "ENSP00000575248.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 370,
"cds_start": 711,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905189.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"hgvs_c": "n.487C>G",
"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": 508,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589728.1"
}
],
"gene_symbol": "PLIN5",
"gene_hgnc_id": 33196,
"dbsnp": "rs764528049",
"frequency_reference_population": 0.000024196797,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.00000871572,
"gnomad_genomes_af": 0.000164143,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3925289809703827,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.9092,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.113,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001013706.3",
"gene_symbol": "PLIN5",
"hgnc_id": 33196,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.990C>G",
"hgvs_p": "p.Phe330Leu"
}
],
"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
}