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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: 8-132817032-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132817032&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132817032,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438309.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Phe443Ser",
"transcript": "NM_016018.5",
"protein_id": "NP_057102.4",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "ENST00000395386.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016018.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Phe443Ser",
"transcript": "ENST00000395386.7",
"protein_id": "ENSP00000378784.2",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": "NM_016018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395386.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "n.1611T>C",
"hgvs_p": null,
"transcript": "ENST00000315808.14",
"protein_id": null,
"transcript_support_level": 1,
"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": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000315808.14"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Phe448Ser",
"transcript": "ENST00000939789.1",
"protein_id": "ENSP00000609848.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1343,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939789.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Phe448Ser",
"transcript": "NM_001438309.1",
"protein_id": "NP_001425238.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1343,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438309.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1340T>C",
"hgvs_p": "p.Phe447Ser",
"transcript": "NM_001438310.1",
"protein_id": "NP_001425239.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1340,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 6241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438310.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1340T>C",
"hgvs_p": "p.Phe447Ser",
"transcript": "ENST00000905699.1",
"protein_id": "ENSP00000575758.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1340,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 5112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905699.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1340T>C",
"hgvs_p": "p.Phe447Ser",
"transcript": "ENST00000972151.1",
"protein_id": "ENSP00000642210.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1340,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972151.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "NM_001438311.1",
"protein_id": "NP_001425240.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438311.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "ENST00000939786.1",
"protein_id": "ENSP00000609845.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939786.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Phe443Ser",
"transcript": "ENST00000939787.1",
"protein_id": "ENSP00000609846.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 5118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939787.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1331T>C",
"hgvs_p": "p.Phe444Ser",
"transcript": "ENST00000972150.1",
"protein_id": "ENSP00000642209.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1018,
"cds_start": 1331,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972150.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1328T>C",
"hgvs_p": "p.Phe443Ser",
"transcript": "ENST00000622263.4",
"protein_id": "ENSP00000482945.1",
"transcript_support_level": 5,
"aa_start": 443,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1328,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622263.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1262T>C",
"hgvs_p": "p.Phe421Ser",
"transcript": "ENST00000972152.1",
"protein_id": "ENSP00000642211.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 995,
"cds_start": 1262,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 4952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972152.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Phe418Ser",
"transcript": "NM_001438312.1",
"protein_id": "NP_001425241.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 993,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 6161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438312.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Phe418Ser",
"transcript": "ENST00000939788.1",
"protein_id": "ENSP00000609847.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 993,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939788.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Phe418Ser",
"transcript": "ENST00000939790.1",
"protein_id": "ENSP00000609849.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 993,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939790.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1250T>C",
"hgvs_p": "p.Phe417Ser",
"transcript": "NM_001438313.1",
"protein_id": "NP_001425242.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 992,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 6154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438313.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Phe418Ser",
"transcript": "ENST00000395390.6",
"protein_id": "ENSP00000378788.2",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 992,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395390.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1253T>C",
"hgvs_p": "p.Phe418Ser",
"transcript": "ENST00000905700.1",
"protein_id": "ENSP00000575759.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 992,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905700.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1250T>C",
"hgvs_p": "p.Phe417Ser",
"transcript": "ENST00000939785.1",
"protein_id": "ENSP00000609844.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 992,
"cds_start": 1250,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939785.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF20L1",
"gene_hgnc_id": 24280,
"hgvs_c": "c.1250T>C",
"hgvs_p": "p.Phe417Ser",
"transcript": "ENST00000972149.1",
"protein_id": "ENSP00000642208.1",
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{
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],
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],
"gene_symbol": "PHF20L1",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28593891859054565,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.188,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001438309.1",
"gene_symbol": "PHF20L1",
"hgnc_id": 24280,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1343T>C",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}