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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: 3-53185643-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53185643&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53185643,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001354676.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "NM_006254.4",
"protein_id": "NP_006245.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "ENST00000330452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006254.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000330452.8",
"protein_id": "ENSP00000331602.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": "NM_006254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330452.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000394729.6",
"protein_id": "ENSP00000378217.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394729.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Val329Leu",
"transcript": "NM_001354676.2",
"protein_id": "NP_001341605.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 695,
"cds_start": 985,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354676.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.976G>C",
"hgvs_p": "p.Val326Leu",
"transcript": "NM_001354678.2",
"protein_id": "NP_001341607.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 692,
"cds_start": 976,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354678.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.964G>C",
"hgvs_p": "p.Val322Leu",
"transcript": "ENST00000949465.1",
"protein_id": "ENSP00000619524.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 688,
"cds_start": 964,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949465.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "NM_001316327.2",
"protein_id": "NP_001303256.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316327.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "NM_001354679.2",
"protein_id": "NP_001341608.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354679.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "NM_001354680.2",
"protein_id": "NP_001341609.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 2949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354680.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "NM_212539.2",
"protein_id": "NP_997704.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212539.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000650739.1",
"protein_id": "ENSP00000498623.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650739.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000652449.1",
"protein_id": "ENSP00000498400.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652449.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000654719.1",
"protein_id": "ENSP00000499558.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000654719.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000883492.1",
"protein_id": "ENSP00000553551.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883492.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000883493.1",
"protein_id": "ENSP00000553552.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883493.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000928339.1",
"protein_id": "ENSP00000598398.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928339.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949457.1",
"protein_id": "ENSP00000619516.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949457.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949458.1",
"protein_id": "ENSP00000619517.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949458.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949459.1",
"protein_id": "ENSP00000619518.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949459.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949462.1",
"protein_id": "ENSP00000619521.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949462.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949466.1",
"protein_id": "ENSP00000619525.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 676,
"cds_start": 928,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949466.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "c.928G>C",
"hgvs_p": "p.Val310Leu",
"transcript": "ENST00000949467.1",
"protein_id": "ENSP00000619526.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
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"transcript": "XR_007095706.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095706.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"hgvs_c": "n.*332G>C",
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"transcript": "ENST00000651505.1",
"protein_id": "ENSP00000498262.1",
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"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": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651505.1"
}
],
"gene_symbol": "PRKCD",
"gene_hgnc_id": 9399,
"dbsnp": "rs773144753",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13363462686538696,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.1321,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.609,
"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_001354676.2",
"gene_symbol": "PRKCD",
"hgnc_id": 9399,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.985G>C",
"hgvs_p": "p.Val329Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}