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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: 9-122390342-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122390342&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122390342,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000362012.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1441G>T",
"hgvs_p": "p.Val481Leu",
"transcript": "NM_000962.4",
"protein_id": "NP_000953.2",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 599,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "ENST00000362012.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1441G>T",
"hgvs_p": "p.Val481Leu",
"transcript": "ENST00000362012.7",
"protein_id": "ENSP00000354612.2",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 599,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": "NM_000962.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Val444Leu",
"transcript": "ENST00000223423.8",
"protein_id": "ENSP00000223423.4",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 562,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1335,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Val444Leu",
"transcript": "NM_080591.3",
"protein_id": "NP_542158.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 562,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Val433Leu",
"transcript": "NM_001271164.2",
"protein_id": "NP_001258093.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 551,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Val433Leu",
"transcript": "ENST00000619306.5",
"protein_id": "ENSP00000483540.2",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 551,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Val419Leu",
"transcript": "NM_001271368.2",
"protein_id": "NP_001258297.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 537,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 5373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Val419Leu",
"transcript": "ENST00000540753.6",
"protein_id": "ENSP00000437709.1",
"transcript_support_level": 2,
"aa_start": 419,
"aa_end": null,
"aa_length": 537,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1114G>T",
"hgvs_p": "p.Val372Leu",
"transcript": "NM_001271165.2",
"protein_id": "NP_001258094.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 490,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1114G>T",
"hgvs_p": "p.Val372Leu",
"transcript": "ENST00000373698.7",
"protein_id": "ENSP00000362802.5",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 490,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu",
"transcript": "NM_001271166.2",
"protein_id": "NP_001258095.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu",
"transcript": "NM_001271367.2",
"protein_id": "NP_001258296.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 453,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "c.1003G>T",
"hgvs_p": "p.Val335Leu",
"transcript": "ENST00000643810.1",
"protein_id": "ENSP00000494717.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 401,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.1535G>T",
"hgvs_p": null,
"transcript": "ENST00000643576.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.951G>T",
"hgvs_p": null,
"transcript": "ENST00000645132.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.*1286G>T",
"hgvs_p": null,
"transcript": "ENST00000647067.1",
"protein_id": "ENSP00000495728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"hgvs_c": "n.*1286G>T",
"hgvs_p": null,
"transcript": "ENST00000647067.1",
"protein_id": "ENSP00000495728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTGS1",
"gene_hgnc_id": 9604,
"dbsnp": "rs5794",
"frequency_reference_population": 6.8416114e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84161e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5066301226615906,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.26,
"revel_prediction": "Benign",
"alphamissense_score": 0.1356,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.512,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000362012.7",
"gene_symbol": "PTGS1",
"hgnc_id": 9604,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD",
"hgvs_c": "c.1441G>T",
"hgvs_p": "p.Val481Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}