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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: 14-73874096-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73874096&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73874096,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001146154.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001146154.2",
"protein_id": "NP_001139626.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": "ENST00000555661.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "ENST00000555661.6",
"protein_id": "ENSP00000452280.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2765,
"mane_select": "NM_001146154.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "ENST00000267568.8",
"protein_id": "ENSP00000267568.4",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258653",
"gene_hgnc_id": null,
"hgvs_c": "n.230G>C",
"hgvs_p": null,
"transcript": "ENST00000556551.2",
"protein_id": "ENSP00000451484.1",
"transcript_support_level": 2,
"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": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001146155.3",
"protein_id": "NP_001139627.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371325.1",
"protein_id": "NP_001358254.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_152444.4",
"protein_id": "NP_689657.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "ENST00000555228.5",
"protein_id": "ENSP00000450975.1",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 351,
"cds_start": 230,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371326.1",
"protein_id": "NP_001358255.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 294,
"cds_start": 230,
"cds_end": null,
"cds_length": 885,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371327.1",
"protein_id": "NP_001358256.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 281,
"cds_start": 230,
"cds_end": null,
"cds_length": 846,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371328.1",
"protein_id": "NP_001358257.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 281,
"cds_start": 230,
"cds_end": null,
"cds_length": 846,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371329.1",
"protein_id": "NP_001358258.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 281,
"cds_start": 230,
"cds_end": null,
"cds_length": 846,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala",
"transcript": "NM_001371334.1",
"protein_id": "NP_001358263.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 120,
"cds_start": 230,
"cds_end": null,
"cds_length": 363,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 761,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "n.354G>C",
"hgvs_p": null,
"transcript": "ENST00000555976.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 516,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "n.955G>C",
"hgvs_p": null,
"transcript": "ENST00000556219.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 4859,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "n.451G>C",
"hgvs_p": null,
"transcript": "NR_163921.1",
"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": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.-266G>C",
"hgvs_p": null,
"transcript": "NM_001371330.1",
"protein_id": "NP_001358259.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.-266G>C",
"hgvs_p": null,
"transcript": "NM_001371331.1",
"protein_id": "NP_001358260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.-266G>C",
"hgvs_p": null,
"transcript": "NM_001371332.1",
"protein_id": "NP_001358261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"hgvs_c": "c.-102G>C",
"hgvs_p": null,
"transcript": "ENST00000553813.1",
"protein_id": "ENSP00000450824.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": -4,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273711",
"gene_hgnc_id": null,
"hgvs_c": "n.1994-384C>G",
"hgvs_p": null,
"transcript": "ENST00000648345.1",
"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": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTGR2",
"gene_hgnc_id": 20149,
"dbsnp": "rs1443765076",
"frequency_reference_population": 0.000006572461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657246,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7279595136642456,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.44999998807907104,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.332,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.24,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.45,
"spliceai_max_prediction": "Uncertain_significance",
"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": "NM_001146154.2",
"gene_symbol": "PTGR2",
"hgnc_id": 20149,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Gly77Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556551.2",
"gene_symbol": "ENSG00000258653",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.230G>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000648345.1",
"gene_symbol": "ENSG00000273711",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1994-384C>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
}