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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: 11-36462413-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=36462413&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 36462413,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_024841.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "NM_001160167.2",
"protein_id": "NP_001153639.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530639.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160167.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000530639.6",
"protein_id": "ENSP00000435050.1",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160167.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530639.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000378867.7",
"protein_id": "ENSP00000368144.3",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378867.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "n.230C>A",
"hgvs_p": null,
"transcript": "ENST00000530627.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000530627.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.841C>A",
"hgvs_p": "p.Arg281Arg",
"transcript": "ENST00000869229.1",
"protein_id": "ENSP00000539287.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 387,
"cds_start": 841,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869229.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "NM_024841.5",
"protein_id": "NP_079117.3",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024841.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869181.1",
"protein_id": "ENSP00000539240.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869181.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869186.1",
"protein_id": "ENSP00000539245.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869186.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869187.1",
"protein_id": "ENSP00000539246.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869187.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869188.1",
"protein_id": "ENSP00000539247.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869188.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869189.1",
"protein_id": "ENSP00000539248.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869189.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869190.1",
"protein_id": "ENSP00000539249.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869190.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869192.1",
"protein_id": "ENSP00000539251.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869192.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869193.1",
"protein_id": "ENSP00000539252.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869193.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869194.1",
"protein_id": "ENSP00000539253.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869194.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869195.1",
"protein_id": "ENSP00000539254.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869195.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869196.1",
"protein_id": "ENSP00000539255.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869196.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869197.1",
"protein_id": "ENSP00000539256.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869197.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869198.1",
"protein_id": "ENSP00000539257.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869198.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869199.1",
"protein_id": "ENSP00000539258.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869199.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869200.1",
"protein_id": "ENSP00000539259.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869200.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg",
"transcript": "ENST00000869201.1",
"protein_id": "ENSP00000539260.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 368,
"cds_start": 784,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000525672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"hgvs_c": "n.285C>A",
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"transcript": "ENST00000529020.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000529020.1"
}
],
"gene_symbol": "PRR5L",
"gene_hgnc_id": 25878,
"dbsnp": "rs367619940",
"frequency_reference_population": 0.000024729623,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000266696,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 38,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.1599999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.203,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024841.5",
"gene_symbol": "PRR5L",
"hgnc_id": 25878,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.784C>A",
"hgvs_p": "p.Arg262Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}