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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: 3-51663289-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51663289&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51663289,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015106.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "NM_015106.4",
"protein_id": "NP_055921.2",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684192.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015106.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000684192.1",
"protein_id": "ENSP00000507587.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015106.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684192.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "NM_001322253.2",
"protein_id": "NP_001309182.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322253.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "NM_001322256.2",
"protein_id": "NP_001309185.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322256.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000409535.6",
"protein_id": "ENSP00000386520.1",
"transcript_support_level": 5,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409535.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000871491.1",
"protein_id": "ENSP00000541550.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871491.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000871492.1",
"protein_id": "ENSP00000541551.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871492.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000871493.1",
"protein_id": "ENSP00000541552.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871493.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000871494.1",
"protein_id": "ENSP00000541553.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871494.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000930213.1",
"protein_id": "ENSP00000600272.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930213.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser",
"transcript": "ENST00000930214.1",
"protein_id": "ENSP00000600273.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930214.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4267G>A",
"hgvs_p": "p.Gly1423Ser",
"transcript": "NM_001387866.1",
"protein_id": "NP_001374795.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387866.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4267G>A",
"hgvs_p": "p.Gly1423Ser",
"transcript": "ENST00000930212.1",
"protein_id": "ENSP00000600271.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930212.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4267G>A",
"hgvs_p": "p.Gly1423Ser",
"transcript": "ENST00000961134.1",
"protein_id": "ENSP00000631193.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961134.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4258G>A",
"hgvs_p": "p.Gly1420Ser",
"transcript": "NM_001387867.1",
"protein_id": "NP_001374796.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1462,
"cds_start": 4258,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387867.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4258G>A",
"hgvs_p": "p.Gly1420Ser",
"transcript": "ENST00000871495.1",
"protein_id": "ENSP00000541554.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1462,
"cds_start": 4258,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871495.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4180G>A",
"hgvs_p": "p.Gly1394Ser",
"transcript": "ENST00000930215.1",
"protein_id": "ENSP00000600274.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1436,
"cds_start": 4180,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930215.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.4117G>A",
"hgvs_p": "p.Gly1373Ser",
"transcript": "NM_001387869.1",
"protein_id": "NP_001374798.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1415,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387869.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "c.3757G>A",
"hgvs_p": "p.Gly1253Ser",
"transcript": "ENST00000432863.1",
"protein_id": "ENSP00000410283.1",
"transcript_support_level": 2,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3757,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432863.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TEX264",
"gene_hgnc_id": 30247,
"hgvs_c": "c.-35+413G>A",
"hgvs_p": null,
"transcript": "ENST00000419358.5",
"protein_id": "ENSP00000408989.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "n.4824G>A",
"hgvs_p": null,
"transcript": "ENST00000461680.1",
"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": "retained_intron",
"feature": "ENST00000461680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"hgvs_c": "n.4477G>A",
"hgvs_p": null,
"transcript": "ENST00000487093.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000487093.5"
}
],
"gene_symbol": "RAD54L2",
"gene_hgnc_id": 29123,
"dbsnp": "rs755846601",
"frequency_reference_population": 0.0000130127,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136826,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13090965151786804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0786,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.796,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015106.4",
"gene_symbol": "RAD54L2",
"hgnc_id": 29123,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4273G>A",
"hgvs_p": "p.Gly1425Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000419358.5",
"gene_symbol": "TEX264",
"hgnc_id": 30247,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-35+413G>A",
"hgvs_p": null
}
],
"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
}