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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: 7-157621367-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157621367&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157621367,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000389418.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2339T>C",
"hgvs_p": "p.Leu780Pro",
"transcript": "NM_002847.5",
"protein_id": "NP_002838.2",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2339,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": "ENST00000389418.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2339T>C",
"hgvs_p": "p.Leu780Pro",
"transcript": "ENST00000389418.9",
"protein_id": "ENSP00000374069.4",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2339,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": "NM_002847.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2288T>C",
"hgvs_p": "p.Leu763Pro",
"transcript": "ENST00000389416.8",
"protein_id": "ENSP00000374067.4",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 998,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2252T>C",
"hgvs_p": "p.Leu751Pro",
"transcript": "ENST00000389413.7",
"protein_id": "ENSP00000374064.3",
"transcript_support_level": 1,
"aa_start": 751,
"aa_end": null,
"aa_length": 986,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Leu803Pro",
"transcript": "NM_001308268.2",
"protein_id": "NP_001295197.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2288T>C",
"hgvs_p": "p.Leu763Pro",
"transcript": "NM_130842.4",
"protein_id": "NP_570857.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 998,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2442,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2252T>C",
"hgvs_p": "p.Leu751Pro",
"transcript": "NM_130843.4",
"protein_id": "NP_570858.2",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 986,
"cds_start": 2252,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 4773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2225T>C",
"hgvs_p": "p.Leu742Pro",
"transcript": "NM_001308267.2",
"protein_id": "NP_001295196.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 977,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2379,
"cdna_end": null,
"cdna_length": 4746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2225T>C",
"hgvs_p": "p.Leu742Pro",
"transcript": "ENST00000409483.5",
"protein_id": "ENSP00000387114.1",
"transcript_support_level": 2,
"aa_start": 742,
"aa_end": null,
"aa_length": 977,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.143T>C",
"hgvs_p": "p.Leu48Pro",
"transcript": "ENST00000648371.1",
"protein_id": "ENSP00000498058.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 293,
"cds_start": 143,
"cds_end": null,
"cds_length": 882,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2201T>C",
"hgvs_p": "p.Leu734Pro",
"transcript": "XM_047420678.1",
"protein_id": "XP_047276634.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 969,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 2355,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2141T>C",
"hgvs_p": "p.Leu714Pro",
"transcript": "XM_017012475.1",
"protein_id": "XP_016867964.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 949,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2138T>C",
"hgvs_p": "p.Leu713Pro",
"transcript": "XM_047420679.1",
"protein_id": "XP_047276635.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 948,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2339T>C",
"hgvs_p": "p.Leu780Pro",
"transcript": "XM_017012476.2",
"protein_id": "XP_016867965.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 866,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"hgvs_c": "c.2339T>C",
"hgvs_p": "p.Leu780Pro",
"transcript": "XM_011516446.2",
"protein_id": "XP_011514748.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 834,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "ENSG00000222012",
"gene_hgnc_id": null,
"hgvs_c": "n.83+7266A>G",
"hgvs_p": null,
"transcript": "ENST00000756321.1",
"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": 292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTPRN2",
"gene_hgnc_id": 9677,
"dbsnp": "rs193920806",
"frequency_reference_population": 0.00015943917,
"hom_count_reference_population": 0,
"allele_count_reference_population": 257,
"gnomad_exomes_af": 0.000167164,
"gnomad_genomes_af": 0.0000853825,
"gnomad_exomes_ac": 244,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7414804100990295,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5183,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.519,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000389418.9",
"gene_symbol": "PTPRN2",
"hgnc_id": 9677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2339T>C",
"hgvs_p": "p.Leu780Pro"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000756321.1",
"gene_symbol": "ENSG00000222012",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.83+7266A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}