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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: 19-55091894-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55091894&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55091894,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017607.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2176G>T",
"hgvs_p": "p.Ala726Ser",
"transcript": "NM_017607.4",
"protein_id": "NP_060077.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 782,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263433.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017607.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2176G>T",
"hgvs_p": "p.Ala726Ser",
"transcript": "ENST00000263433.8",
"protein_id": "ENSP00000263433.1",
"transcript_support_level": 1,
"aa_start": 726,
"aa_end": null,
"aa_length": 782,
"cds_start": 2176,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017607.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263433.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Ala680Ser",
"transcript": "ENST00000592993.1",
"protein_id": "ENSP00000465957.1",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 736,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592993.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2173G>T",
"hgvs_p": "p.Ala725Ser",
"transcript": "ENST00000854894.1",
"protein_id": "ENSP00000524953.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 781,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854894.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2173G>T",
"hgvs_p": "p.Ala725Ser",
"transcript": "ENST00000854895.1",
"protein_id": "ENSP00000524954.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 781,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854895.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2170G>T",
"hgvs_p": "p.Ala724Ser",
"transcript": "NM_001271618.2",
"protein_id": "NP_001258547.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 780,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271618.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2170G>T",
"hgvs_p": "p.Ala724Ser",
"transcript": "ENST00000954568.1",
"protein_id": "ENSP00000624627.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 780,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954568.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2146G>T",
"hgvs_p": "p.Ala716Ser",
"transcript": "ENST00000954574.1",
"protein_id": "ENSP00000624633.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 772,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954574.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Ala715Ser",
"transcript": "ENST00000954565.1",
"protein_id": "ENSP00000624624.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 771,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954565.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Ala715Ser",
"transcript": "ENST00000954571.1",
"protein_id": "ENSP00000624630.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 771,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954571.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2140G>T",
"hgvs_p": "p.Ala714Ser",
"transcript": "ENST00000954566.1",
"protein_id": "ENSP00000624625.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 770,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954566.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2122G>T",
"hgvs_p": "p.Ala708Ser",
"transcript": "ENST00000954570.1",
"protein_id": "ENSP00000624629.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 764,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954570.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2116G>T",
"hgvs_p": "p.Ala706Ser",
"transcript": "ENST00000954567.1",
"protein_id": "ENSP00000624626.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 762,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954567.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2029G>T",
"hgvs_p": "p.Ala677Ser",
"transcript": "ENST00000954572.1",
"protein_id": "ENSP00000624631.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 733,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954572.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1951G>T",
"hgvs_p": "p.Ala651Ser",
"transcript": "ENST00000435544.6",
"protein_id": "ENSP00000387833.2",
"transcript_support_level": 2,
"aa_start": 651,
"aa_end": null,
"aa_length": 707,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435544.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1882G>T",
"hgvs_p": "p.Ala628Ser",
"transcript": "ENST00000954573.1",
"protein_id": "ENSP00000624632.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 684,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954573.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1879G>T",
"hgvs_p": "p.Ala627Ser",
"transcript": "ENST00000954575.1",
"protein_id": "ENSP00000624634.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 683,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954575.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.1876G>T",
"hgvs_p": "p.Ala626Ser",
"transcript": "ENST00000954569.1",
"protein_id": "ENSP00000624628.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 682,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954569.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.529G>T",
"hgvs_p": "p.Ala177Ser",
"transcript": "ENST00000591938.5",
"protein_id": "ENSP00000468148.1",
"transcript_support_level": 5,
"aa_start": 177,
"aa_end": null,
"aa_length": 233,
"cds_start": 529,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591938.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2173G>T",
"hgvs_p": "p.Ala725Ser",
"transcript": "XM_005259013.5",
"protein_id": "XP_005259070.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 781,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259013.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "c.2173G>T",
"hgvs_p": "p.Ala725Ser",
"transcript": "XM_011527045.3",
"protein_id": "XP_011525347.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 781,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527045.3"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "n.393G>T",
"hgvs_p": null,
"transcript": "ENST00000590268.1",
"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": "ENST00000590268.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"hgvs_c": "n.2167G>T",
"hgvs_p": null,
"transcript": "XR_007066879.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066879.1"
}
],
"gene_symbol": "PPP1R12C",
"gene_hgnc_id": 14947,
"dbsnp": "rs773125943",
"frequency_reference_population": 0.000018597017,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000177962,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028980672359466553,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.1116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.73,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017607.4",
"gene_symbol": "PPP1R12C",
"hgnc_id": 14947,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2176G>T",
"hgvs_p": "p.Ala726Ser"
}
],
"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
}