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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: 12-10702121-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10702121&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 10702121,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003651.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "NM_003651.5",
"protein_id": "NP_003642.3",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 372,
"cds_start": 892,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": "ENST00000228251.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003651.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000228251.9",
"protein_id": "ENSP00000228251.4",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 372,
"cds_start": 892,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 1931,
"mane_select": "NM_003651.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228251.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Cys",
"transcript": "ENST00000279550.11",
"protein_id": "ENSP00000279550.7",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 303,
"cds_start": 685,
"cds_end": null,
"cds_length": 912,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279550.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.1087C>T",
"hgvs_p": "p.Arg363Cys",
"transcript": "ENST00000955210.1",
"protein_id": "ENSP00000625269.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 437,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955210.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.922C>T",
"hgvs_p": "p.Arg308Cys",
"transcript": "ENST00000955208.1",
"protein_id": "ENSP00000625267.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 382,
"cds_start": 922,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955208.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Cys",
"transcript": "ENST00000895014.1",
"protein_id": "ENSP00000565073.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 378,
"cds_start": 910,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895014.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.Arg304Cys",
"transcript": "ENST00000955211.1",
"protein_id": "ENSP00000625270.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 378,
"cds_start": 910,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955211.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000895017.1",
"protein_id": "ENSP00000565076.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 372,
"cds_start": 892,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895017.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000895018.1",
"protein_id": "ENSP00000565077.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 372,
"cds_start": 892,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895018.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000932591.1",
"protein_id": "ENSP00000602650.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 372,
"cds_start": 892,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932591.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297Cys",
"transcript": "ENST00000895012.1",
"protein_id": "ENSP00000565071.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 371,
"cds_start": 889,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895012.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys",
"transcript": "ENST00000932592.1",
"protein_id": "ENSP00000602651.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 370,
"cds_start": 892,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932592.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "ENST00000895010.1",
"protein_id": "ENSP00000565069.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 369,
"cds_start": 883,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895010.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.883C>T",
"hgvs_p": "p.Arg295Cys",
"transcript": "ENST00000955209.1",
"protein_id": "ENSP00000625268.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 369,
"cds_start": 883,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955209.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"transcript": "ENST00000895015.1",
"protein_id": "ENSP00000565074.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 368,
"cds_start": 880,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895015.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.880C>T",
"hgvs_p": "p.Arg294Cys",
"transcript": "ENST00000955212.1",
"protein_id": "ENSP00000625271.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 368,
"cds_start": 880,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955212.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Cys",
"transcript": "ENST00000932594.1",
"protein_id": "ENSP00000602653.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 362,
"cds_start": 862,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932594.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.784C>T",
"hgvs_p": "p.Arg262Cys",
"transcript": "ENST00000955215.1",
"protein_id": "ENSP00000625274.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 336,
"cds_start": 784,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955215.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257Cys",
"transcript": "ENST00000955201.1",
"protein_id": "ENSP00000625260.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 331,
"cds_start": 769,
"cds_end": null,
"cds_length": 996,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955201.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000955202.1",
"protein_id": "ENSP00000625261.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 330,
"cds_start": 766,
"cds_end": null,
"cds_length": 993,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955202.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.718C>T",
"hgvs_p": "p.Arg240Cys",
"transcript": "ENST00000955206.1",
"protein_id": "ENSP00000625265.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 314,
"cds_start": 718,
"cds_end": null,
"cds_length": 945,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955206.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "YBX3",
"gene_hgnc_id": 2428,
"hgvs_c": "c.685C>T",
"hgvs_p": "p.Arg229Cys",
"transcript": "NM_001145426.2",
"protein_id": "NP_001138898.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 303,
"cds_start": 685,
"cds_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000546164.5"
}
],
"gene_symbol": "YBX3",
"gene_hgnc_id": 2428,
"dbsnp": "rs570498280",
"frequency_reference_population": 0.000009294809,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000889448,
"gnomad_genomes_af": 0.0000131385,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6167725920677185,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.192,
"revel_prediction": "Benign",
"alphamissense_score": 0.3541,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.336,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": "NM_003651.5",
"gene_symbol": "YBX3",
"hgnc_id": 2428,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892C>T",
"hgvs_p": "p.Arg298Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}