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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: 1-20086199-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=20086199&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 20086199,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000375108.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "NM_000929.3",
"protein_id": "NP_000920.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "ENST00000375108.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "ENST00000375108.4",
"protein_id": "ENSP00000364249.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": "NM_000929.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84*",
"transcript": "XM_005245891.6",
"protein_id": "XP_005245948.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 250,
"cds_end": null,
"cds_length": 510,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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": "c.250C>T",
"hgvs_p": "p.Arg84*",
"transcript": "XM_005245892.6",
"protein_id": "XP_005245949.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 250,
"cds_end": null,
"cds_length": 510,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84*",
"transcript": "XM_011541586.4",
"protein_id": "XP_011539888.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 250,
"cds_end": null,
"cds_length": 510,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84*",
"transcript": "XM_047422608.1",
"protein_id": "XP_047278564.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 250,
"cds_end": null,
"cds_length": 510,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Arg84*",
"transcript": "XM_047422616.1",
"protein_id": "XP_047278572.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 169,
"cds_start": 250,
"cds_end": null,
"cds_length": 510,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_005245893.6",
"protein_id": "XP_005245950.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541587.4",
"protein_id": "XP_011539889.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541588.4",
"protein_id": "XP_011539890.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541589.4",
"protein_id": "XP_011539891.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541590.4",
"protein_id": "XP_011539892.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541591.4",
"protein_id": "XP_011539893.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_011541592.4",
"protein_id": "XP_011539894.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_047422635.1",
"protein_id": "XP_047278591.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_047422637.1",
"protein_id": "XP_047278593.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 2542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"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": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_047422643.1",
"protein_id": "XP_047278599.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*",
"transcript": "XM_047422645.1",
"protein_id": "XP_047278601.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 138,
"cds_start": 157,
"cds_end": null,
"cds_length": 417,
"cdna_start": 632,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.936C>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": 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.668C>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": 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.691C>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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.476C>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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.1113C>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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G5",
"gene_hgnc_id": 9038,
"hgvs_c": "n.744C>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": "rs200954922",
"frequency_reference_population": 0.000011771178,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000820868,
"gnomad_genomes_af": 0.0000459788,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"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": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.045,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000375108.4",
"gene_symbol": "PLA2G5",
"hgnc_id": 9038,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.157C>T",
"hgvs_p": "p.Arg53*"
}
],
"clinvar_disease": "Familial benign flecked retina,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial benign flecked retina|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}