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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: 15-64156114-GTCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64156114&ref=GTCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 64156114,
"ref": "GTCTT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000942.5",
"consequences": [
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.556_559delAAGA",
"hgvs_p": "p.Lys186fs",
"transcript": "NM_000942.5",
"protein_id": "NP_000933.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 216,
"cds_start": 556,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000942.5"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.556_559delAAGA",
"hgvs_p": "p.Lys186fs",
"transcript": "ENST00000300026.4",
"protein_id": "ENSP00000300026.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 216,
"cds_start": 556,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300026.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX22",
"gene_hgnc_id": 16315,
"hgvs_c": "c.*1607_*1610delTCTT",
"hgvs_p": null,
"transcript": "NM_024798.3",
"protein_id": "NP_079074.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325881.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024798.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX22",
"gene_hgnc_id": 16315,
"hgvs_c": "c.*1607_*1610delTCTT",
"hgvs_p": null,
"transcript": "ENST00000325881.9",
"protein_id": "ENSP00000323435.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024798.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325881.9"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX22",
"gene_hgnc_id": 16315,
"hgvs_c": "n.2002_2005delTCTT",
"hgvs_p": null,
"transcript": "ENST00000560997.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000560997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "n.3783_3786delAAGA",
"hgvs_p": null,
"transcript": "ENST00000561048.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000561048.2"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.583_586delAAGA",
"hgvs_p": "p.Lys195fs",
"transcript": "ENST00000851557.1",
"protein_id": "ENSP00000521616.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 225,
"cds_start": 583,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851557.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.556_559delAAGA",
"hgvs_p": "p.Lys186fs",
"transcript": "ENST00000681397.1",
"protein_id": "ENSP00000506584.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 216,
"cds_start": 556,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681397.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.553_556delAAGA",
"hgvs_p": "p.Lys185fs",
"transcript": "ENST00000851556.1",
"protein_id": "ENSP00000521615.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 215,
"cds_start": 553,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851556.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.550_553delAAGA",
"hgvs_p": "p.Lys184fs",
"transcript": "ENST00000919164.1",
"protein_id": "ENSP00000589223.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 214,
"cds_start": 550,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919164.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.475_478delAAGA",
"hgvs_p": "p.Lys159fs",
"transcript": "ENST00000919167.1",
"protein_id": "ENSP00000589226.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 189,
"cds_start": 475,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919167.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.451_454delAAGA",
"hgvs_p": "p.Lys151fs",
"transcript": "ENST00000681658.1",
"protein_id": "ENSP00000505431.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 181,
"cds_start": 451,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681658.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.439_442delAAGA",
"hgvs_p": "p.Lys147fs",
"transcript": "ENST00000919170.1",
"protein_id": "ENSP00000589229.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 177,
"cds_start": 439,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919170.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.427_430delAAGA",
"hgvs_p": "p.Lys143fs",
"transcript": "ENST00000919166.1",
"protein_id": "ENSP00000589225.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 173,
"cds_start": 427,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919166.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.424_427delAAGA",
"hgvs_p": "p.Lys142fs",
"transcript": "ENST00000919173.1",
"protein_id": "ENSP00000589232.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 172,
"cds_start": 424,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919173.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.415_418delAAGA",
"hgvs_p": "p.Lys139fs",
"transcript": "ENST00000919162.1",
"protein_id": "ENSP00000589221.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 169,
"cds_start": 415,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919162.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.397_400delAAGA",
"hgvs_p": "p.Lys133fs",
"transcript": "ENST00000919169.1",
"protein_id": "ENSP00000589228.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 163,
"cds_start": 397,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919169.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.382_385delAAGA",
"hgvs_p": "p.Lys128fs",
"transcript": "ENST00000718123.1",
"protein_id": "ENSP00000520679.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 158,
"cds_start": 382,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718123.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.277_280delAAGA",
"hgvs_p": "p.Lys93fs",
"transcript": "ENST00000919163.1",
"protein_id": "ENSP00000589222.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 123,
"cds_start": 277,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919163.1"
},
{
"aa_ref": "KT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.43_46delAAGA",
"hgvs_p": "p.Lys15fs",
"transcript": "ENST00000919171.1",
"protein_id": "ENSP00000589230.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 45,
"cds_start": 43,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919171.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX22",
"gene_hgnc_id": 16315,
"hgvs_c": "c.*1607_*1610delTCTT",
"hgvs_p": null,
"transcript": "XM_017022581.2",
"protein_id": "XP_016878070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022581.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPIB",
"gene_hgnc_id": 9255,
"hgvs_c": "c.136-90_136-87delAAGA",
"hgvs_p": null,
"transcript": "ENST00000919172.1",
"protein_id": "ENSP00000589231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919172.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 2,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.447,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000942.5",
"gene_symbol": "PPIB",
"hgnc_id": 9255,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.556_559delAAGA",
"hgvs_p": "p.Lys186fs"
},
{
"score": 10,
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"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_024798.3",
"gene_symbol": "SNX22",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1607_*1610delTCTT",
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}
],
"clinvar_disease": "Osteogenesis imperfecta,Osteogenesis imperfecta type 9,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:1",
"phenotype_combined": "Osteogenesis imperfecta type 9|not provided|Osteogenesis imperfecta",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}