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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: X-1290412-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=1290412&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 1290412,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001161530.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_172245.4",
"protein_id": "NP_758448.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 400,
"cds_start": 549,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381529.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172245.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000381529.9",
"protein_id": "ENSP00000370940.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 400,
"cds_start": 549,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172245.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381529.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000381509.8",
"protein_id": "ENSP00000370920.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 410,
"cds_start": 549,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381509.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000381524.8",
"protein_id": "ENSP00000370935.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 400,
"cds_start": 549,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381524.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000432318.8",
"protein_id": "ENSP00000416437.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 400,
"cds_start": 549,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432318.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000355432.8",
"protein_id": "ENSP00000347606.3",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 377,
"cds_start": 549,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355432.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000381500.6",
"protein_id": "ENSP00000370911.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 333,
"cds_start": 549,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381500.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000355805.7",
"protein_id": "ENSP00000348058.2",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 233,
"cds_start": 549,
"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": "ENST00000355805.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "n.549G>C",
"hgvs_p": null,
"transcript": "ENST00000486791.6",
"protein_id": "ENSP00000436825.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000486791.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001161530.2",
"protein_id": "NP_001155002.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161530.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001379153.1",
"protein_id": "NP_001366082.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379153.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001379154.1",
"protein_id": "NP_001366083.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379154.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000498153.7",
"protein_id": "ENSP00000512483.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498153.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000886980.1",
"protein_id": "ENSP00000557039.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886980.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000969306.1",
"protein_id": "ENSP00000639365.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969306.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000969309.1",
"protein_id": "ENSP00000639368.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969309.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000969311.1",
"protein_id": "ENSP00000639370.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 434,
"cds_start": 549,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969311.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000718260.1",
"protein_id": "ENSP00000520700.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 431,
"cds_start": 549,
"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": "ENST00000718260.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001161531.2",
"protein_id": "NP_001155003.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 410,
"cds_start": 549,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161531.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001379155.1",
"protein_id": "NP_001366084.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 410,
"cds_start": 549,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379155.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000886981.1",
"protein_id": "ENSP00000557040.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 408,
"cds_start": 549,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886981.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu",
"transcript": "NM_001161529.2",
"protein_id": "NP_001155001.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 400,
"cds_start": 549,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"hgvs_c": "n.-41G>C",
"hgvs_p": null,
"transcript": "ENST00000475259.6",
"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": "pseudogene",
"feature": "ENST00000475259.6"
}
],
"gene_symbol": "CSF2RA",
"gene_hgnc_id": 2435,
"dbsnp": "rs139093878",
"frequency_reference_population": 0.00048026393,
"hom_count_reference_population": 323,
"allele_count_reference_population": 775,
"gnomad_exomes_af": 0.0002518,
"gnomad_genomes_af": 0.00267383,
"gnomad_exomes_ac": 368,
"gnomad_genomes_ac": 407,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9399999976158142,
"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": -0.94,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.887,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001161530.2",
"gene_symbol": "CSF2RA",
"hgnc_id": 2435,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.549G>C",
"hgvs_p": "p.Leu183Leu"
}
],
"clinvar_disease": " 4, pulmonary,Surfactant metabolism dysfunction,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Surfactant metabolism dysfunction, pulmonary, 4|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}