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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: 9-15468830-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=15468830&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 15468830,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033222.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "NM_033222.5",
"protein_id": "NP_150091.2",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "ENST00000380733.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033222.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000380733.9",
"protein_id": "ENSP00000370109.4",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": "NM_033222.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380733.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000380738.8",
"protein_id": "ENSP00000370114.4",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1537,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380738.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1256A>G",
"hgvs_p": "p.Lys419Arg",
"transcript": "ENST00000950213.1",
"protein_id": "ENSP00000620272.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 542,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950213.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "NM_001128217.3",
"protein_id": "NP_001121689.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128217.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000901729.1",
"protein_id": "ENSP00000571788.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901729.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000901731.1",
"protein_id": "ENSP00000571790.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901731.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000901732.1",
"protein_id": "ENSP00000571791.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901732.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000901733.1",
"protein_id": "ENSP00000571792.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901733.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000917556.1",
"protein_id": "ENSP00000587615.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917556.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000917558.1",
"protein_id": "ENSP00000587617.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917558.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000917559.1",
"protein_id": "ENSP00000587618.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917559.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000917561.1",
"protein_id": "ENSP00000587620.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 3271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917561.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000950211.1",
"protein_id": "ENSP00000620270.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950211.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg",
"transcript": "ENST00000950214.1",
"protein_id": "ENSP00000620273.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 530,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950214.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Lys406Arg",
"transcript": "ENST00000917560.1",
"protein_id": "ENSP00000587619.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 529,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917560.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Lys406Arg",
"transcript": "ENST00000950212.1",
"protein_id": "ENSP00000620271.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 529,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950212.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Lys391Arg",
"transcript": "ENST00000901730.1",
"protein_id": "ENSP00000571789.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 514,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901730.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Lys391Arg",
"transcript": "ENST00000917557.1",
"protein_id": "ENSP00000587616.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 514,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917557.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "PSIP1",
"gene_hgnc_id": 9527,
"hgvs_c": "c.740A>G",
"hgvs_p": "p.Lys247Arg",
"transcript": "ENST00000950215.1",
"protein_id": "ENSP00000620274.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 370,
"cds_start": 740,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1064,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950215.1"
}
],
"gene_symbol": "PSIP1",
"gene_hgnc_id": 9527,
"dbsnp": "rs867815405",
"frequency_reference_population": 0.0000034218124,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342181,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7771507501602173,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.22,
"revel_prediction": "Benign",
"alphamissense_score": 0.2662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.449,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_033222.5",
"gene_symbol": "PSIP1",
"hgnc_id": 9527,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1220A>G",
"hgvs_p": "p.Lys407Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}