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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: 12-10701994-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=10701994&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 10701994,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003651.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "NM_003651.5",
"protein_id": "NP_003642.3",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 372,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228251.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003651.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000228251.9",
"protein_id": "ENSP00000228251.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 372,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003651.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228251.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "ENST00000279550.11",
"protein_id": "ENSP00000279550.7",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 303,
"cds_start": 812,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279550.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "ENST00000955210.1",
"protein_id": "ENSP00000625269.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 437,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955210.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1049G>A",
"hgvs_p": "p.Arg350His",
"transcript": "ENST00000955208.1",
"protein_id": "ENSP00000625267.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 382,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955208.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000895014.1",
"protein_id": "ENSP00000565073.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 378,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895014.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1037G>A",
"hgvs_p": "p.Arg346His",
"transcript": "ENST00000955211.1",
"protein_id": "ENSP00000625270.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 378,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955211.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000895017.1",
"protein_id": "ENSP00000565076.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 372,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895017.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000895018.1",
"protein_id": "ENSP00000565077.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 372,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895018.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000932591.1",
"protein_id": "ENSP00000602650.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 372,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932591.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000895012.1",
"protein_id": "ENSP00000565071.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 371,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895012.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1019G>A",
"hgvs_p": "p.Arg340His",
"transcript": "ENST00000932592.1",
"protein_id": "ENSP00000602651.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 370,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932592.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1010G>A",
"hgvs_p": "p.Arg337His",
"transcript": "ENST00000895010.1",
"protein_id": "ENSP00000565069.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895010.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1010G>A",
"hgvs_p": "p.Arg337His",
"transcript": "ENST00000955209.1",
"protein_id": "ENSP00000625268.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 369,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955209.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000895015.1",
"protein_id": "ENSP00000565074.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 368,
"cds_start": 1007,
"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": "ENST00000895015.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1007G>A",
"hgvs_p": "p.Arg336His",
"transcript": "ENST00000955212.1",
"protein_id": "ENSP00000625271.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 368,
"cds_start": 1007,
"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": "ENST00000955212.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.989G>A",
"hgvs_p": "p.Arg330His",
"transcript": "ENST00000932594.1",
"protein_id": "ENSP00000602653.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 362,
"cds_start": 989,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932594.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.911G>A",
"hgvs_p": "p.Arg304His",
"transcript": "ENST00000955215.1",
"protein_id": "ENSP00000625274.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 336,
"cds_start": 911,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955215.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000955201.1",
"protein_id": "ENSP00000625260.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 331,
"cds_start": 896,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955201.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000955202.1",
"protein_id": "ENSP00000625261.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 330,
"cds_start": 893,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955202.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000955206.1",
"protein_id": "ENSP00000625265.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 314,
"cds_start": 845,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955206.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "NM_001145426.2",
"protein_id": "NP_001138898.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 303,
"cds_start": 812,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"allele_count_reference_population": 311,
"gnomad_exomes_af": 0.000192956,
"gnomad_genomes_af": 0.000190416,
"gnomad_exomes_ac": 282,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07747113704681396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.236,
"revel_prediction": "Benign",
"alphamissense_score": 0.1709,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.417,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003651.5",
"gene_symbol": "YBX3",
"hgnc_id": 2428,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1019G>A",
"hgvs_p": "p.Arg340His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}