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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: 8-73422626-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73422626&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 73422626,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001164380.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "NM_001164380.2",
"protein_id": "NP_001157852.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000524300.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164380.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000524300.6",
"protein_id": "ENSP00000428756.1",
"transcript_support_level": 2,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164380.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524300.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Gly504Ala",
"transcript": "ENST00000522695.5",
"protein_id": "ENSP00000428456.1",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 538,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522695.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1613G>C",
"hgvs_p": "p.Gly538Ala",
"transcript": "ENST00000946925.1",
"protein_id": "ENSP00000616984.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 572,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946925.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000868432.1",
"protein_id": "ENSP00000538491.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868432.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000868433.1",
"protein_id": "ENSP00000538492.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868433.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000868434.1",
"protein_id": "ENSP00000538493.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868434.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000868435.1",
"protein_id": "ENSP00000538494.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868435.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000868436.1",
"protein_id": "ENSP00000538495.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868436.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000946924.1",
"protein_id": "ENSP00000616983.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946924.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000946926.1",
"protein_id": "ENSP00000616985.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946926.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala",
"transcript": "ENST00000946927.1",
"protein_id": "ENSP00000616986.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 570,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946927.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1511G>C",
"hgvs_p": "p.Gly504Ala",
"transcript": "NM_001164381.2",
"protein_id": "NP_001157853.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 538,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164381.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1409G>C",
"hgvs_p": "p.Gly470Ala",
"transcript": "NM_001164382.2",
"protein_id": "NP_001157854.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 504,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164382.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1409G>C",
"hgvs_p": "p.Gly470Ala",
"transcript": "ENST00000521210.5",
"protein_id": "ENSP00000429173.1",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 504,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521210.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "NM_001164383.2",
"protein_id": "NP_001157855.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 398,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164383.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "c.1091G>C",
"hgvs_p": "p.Gly364Ala",
"transcript": "ENST00000523558.5",
"protein_id": "ENSP00000428741.1",
"transcript_support_level": 2,
"aa_start": 364,
"aa_end": null,
"aa_length": 398,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"hgvs_c": "n.188G>C",
"hgvs_p": null,
"transcript": "ENST00000522818.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000522818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAU2-AS1",
"gene_hgnc_id": 44101,
"hgvs_c": "n.166+2387C>G",
"hgvs_p": null,
"transcript": "ENST00000517604.1",
"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": "pseudogene",
"feature": "ENST00000517604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAU2-AS1",
"gene_hgnc_id": 44101,
"hgvs_c": "n.236+2387C>G",
"hgvs_p": null,
"transcript": "ENST00000522703.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000522703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAU2-AS1",
"gene_hgnc_id": 44101,
"hgvs_c": "n.166+2387C>G",
"hgvs_p": null,
"transcript": "NR_038406.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_038406.1"
}
],
"gene_symbol": "STAU2",
"gene_hgnc_id": 11371,
"dbsnp": "rs527332052",
"frequency_reference_population": 0.0000058691476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000586915,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1008431613445282,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0787,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.772,
"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": -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_001164380.2",
"gene_symbol": "STAU2",
"hgnc_id": 11371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Gly536Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000517604.1",
"gene_symbol": "STAU2-AS1",
"hgnc_id": 44101,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.166+2387C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}