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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: X-18779035-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18779035&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18779035,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006240.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001377996.1",
"protein_id": "NP_001364925.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000470157.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377996.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000470157.2",
"protein_id": "ENSP00000419273.2",
"transcript_support_level": 3,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377996.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470157.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000361511.9",
"protein_id": "ENSP00000354871.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361511.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001377986.2",
"protein_id": "NP_001364915.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377986.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001377993.1",
"protein_id": "NP_001364922.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377993.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001378381.1",
"protein_id": "NP_001365310.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378381.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001389620.1",
"protein_id": "NP_001376549.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389620.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001389621.1",
"protein_id": "NP_001376550.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389621.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_006240.4",
"protein_id": "NP_006231.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006240.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000471570.6",
"protein_id": "ENSP00000509623.1",
"transcript_support_level": 3,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471570.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000689646.1",
"protein_id": "ENSP00000509616.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689646.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000692488.1",
"protein_id": "ENSP00000510505.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692488.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000908182.1",
"protein_id": "ENSP00000578241.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908182.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000908183.1",
"protein_id": "ENSP00000578242.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 653,
"cds_start": 584,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908183.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000472826.6",
"protein_id": "ENSP00000419948.2",
"transcript_support_level": 4,
"aa_start": 195,
"aa_end": null,
"aa_length": 634,
"cds_start": 584,
"cds_end": null,
"cds_length": 1907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472826.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_152224.2",
"protein_id": "NP_689410.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 625,
"cds_start": 584,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152224.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_001389623.1",
"protein_id": "NP_001376552.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 591,
"cds_start": 584,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389623.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "NM_152226.2",
"protein_id": "NP_689412.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 591,
"cds_start": 584,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152226.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Pro195Leu",
"transcript": "ENST00000349874.10",
"protein_id": "ENSP00000341892.5",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 591,
"cds_start": 584,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349874.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Pro130Leu",
"transcript": "NM_001377994.1",
"protein_id": "NP_001364923.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 588,
"cds_start": 389,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377994.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001377995.1",
"protein_id": "NP_001364924.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 563,
"cds_start": 314,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377995.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPEF1",
"gene_hgnc_id": 9243,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Pro105Leu",
"transcript": "NM_001389624.1",
"protein_id": "NP_001376553.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 563,
"cds_start": 314,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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],
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],
"gene_symbol": "PPEF1",
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"computational_score_selected": 0.4648127853870392,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.114,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.102,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_006240.4",
"gene_symbol": "PPEF1",
"hgnc_id": 9243,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.584C>T",
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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
}