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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: 1-20084839-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20084839&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20084839,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000375108.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "NM_000929.3",
"protein_id": "NP_000920.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "ENST00000375108.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "ENST00000375108.4",
"protein_id": "ENSP00000364249.3",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "NM_000929.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Gly34Gly",
"transcript": "XM_005245891.6",
"protein_id": "XP_005245948.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 102,
"cds_end": null,
"cds_length": 510,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Gly34Gly",
"transcript": "XM_005245892.6",
"protein_id": "XP_005245949.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 102,
"cds_end": null,
"cds_length": 510,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Gly34Gly",
"transcript": "XM_011541586.4",
"protein_id": "XP_011539888.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 102,
"cds_end": null,
"cds_length": 510,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Gly34Gly",
"transcript": "XM_047422608.1",
"protein_id": "XP_047278564.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 102,
"cds_end": null,
"cds_length": 510,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Gly34Gly",
"transcript": "XM_047422616.1",
"protein_id": "XP_047278572.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 102,
"cds_end": null,
"cds_length": 510,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_005245893.6",
"protein_id": "XP_005245950.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541587.4",
"protein_id": "XP_011539889.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541588.4",
"protein_id": "XP_011539890.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541589.4",
"protein_id": "XP_011539891.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541590.4",
"protein_id": "XP_011539892.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541591.4",
"protein_id": "XP_011539893.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_011541592.4",
"protein_id": "XP_011539894.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_047422635.1",
"protein_id": "XP_047278591.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_047422637.1",
"protein_id": "XP_047278593.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_047422643.1",
"protein_id": "XP_047278599.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly",
"transcript": "XM_047422645.1",
"protein_id": "XP_047278601.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 138,
"cds_start": 9,
"cds_end": null,
"cds_length": 417,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.788C>T",
"hgvs_p": null,
"transcript": "ENST00000460175.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.520C>T",
"hgvs_p": null,
"transcript": "ENST00000465698.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.543C>T",
"hgvs_p": null,
"transcript": "ENST00000469069.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.328C>T",
"hgvs_p": null,
"transcript": "ENST00000478803.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.965C>T",
"hgvs_p": null,
"transcript": "ENST00000486277.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.596C>T",
"hgvs_p": null,
"transcript": "ENST00000489871.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"dbsnp": "rs2020887",
"frequency_reference_population": 0.33196282,
"hom_count_reference_population": 91725,
"allele_count_reference_population": 532074,
"gnomad_exomes_af": 0.336813,
"gnomad_genomes_af": 0.285616,
"gnomad_exomes_ac": 488702,
"gnomad_genomes_ac": 43372,
"gnomad_exomes_homalt": 84743,
"gnomad_genomes_homalt": 6982,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.214,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375108.4",
"gene_symbol": "PLA2G5",
"hgnc_id": 9038,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9C>T",
"hgvs_p": "p.Gly3Gly"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}