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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-38269715-CTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=38269715&ref=CTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 38269715,
"ref": "CTT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_000328.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250349",
"gene_hgnc_id": null,
"hgvs_c": "c.172-396404_172-396403delTT",
"hgvs_p": null,
"transcript": "ENST00000465127.1",
"protein_id": "ENSP00000417050.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 279,
"cds_start": null,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465127.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2972_2973delAA",
"hgvs_p": "p.Lys991fs",
"transcript": "ENST00000339363.7",
"protein_id": "ENSP00000343671.3",
"transcript_support_level": 5,
"aa_start": 991,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3141,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339363.7"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2357_2358delAA",
"hgvs_p": "p.Lys786fs",
"transcript": "NM_000328.3",
"protein_id": "NP_000319.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 815,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000328.3"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2357_2358delAA",
"hgvs_p": "p.Lys786fs",
"transcript": "ENST00000642395.2",
"protein_id": "ENSP00000493468.2",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 815,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642395.2"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2354_2355delAA",
"hgvs_p": "p.Lys785fs",
"transcript": "NM_001367245.1",
"protein_id": "NP_001354174.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 814,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 2497,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367245.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2171_2172delAA",
"hgvs_p": "p.Lys724fs",
"transcript": "NM_001367246.1",
"protein_id": "NP_001354175.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 753,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367246.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2171_2172delAA",
"hgvs_p": "p.Lys724fs",
"transcript": "ENST00000644337.1",
"protein_id": "ENSP00000494557.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 753,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644337.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2054_2055delAA",
"hgvs_p": "p.Lys685fs",
"transcript": "NM_001367248.1",
"protein_id": "NP_001354177.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 714,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367248.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2024_2025delAA",
"hgvs_p": "p.Lys675fs",
"transcript": "NM_001367247.1",
"protein_id": "NP_001354176.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 704,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367247.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2021_2022delAA",
"hgvs_p": "p.Lys674fs",
"transcript": "NM_001367249.1",
"protein_id": "NP_001354178.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 703,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367249.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2021_2022delAA",
"hgvs_p": "p.Lys674fs",
"transcript": "NM_001367250.1",
"protein_id": "NP_001354179.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 703,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367250.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1838_1839delAA",
"hgvs_p": "p.Lys613fs",
"transcript": "NM_001367251.1",
"protein_id": "NP_001354180.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 642,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367251.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1838_1839delAA",
"hgvs_p": "p.Lys613fs",
"transcript": "ENST00000644238.1",
"protein_id": "ENSP00000496728.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 642,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644238.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2972_2973delAA",
"hgvs_p": "p.Lys991fs",
"transcript": "XM_047442329.1",
"protein_id": "XP_047298285.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2972,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 3115,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442329.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.2969_2970delAA",
"hgvs_p": "p.Lys990fs",
"transcript": "XM_047442330.1",
"protein_id": "XP_047298286.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2969,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 3112,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442330.1"
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "c.1577_1578delAA",
"hgvs_p": "p.Lys526fs",
"transcript": "XM_047442331.1",
"protein_id": "XP_047298287.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 555,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442331.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*489_*490delAA",
"hgvs_p": null,
"transcript": "ENST00000474584.5",
"protein_id": "ENSP00000418926.1",
"transcript_support_level": 2,
"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": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000474584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.673_674delAA",
"hgvs_p": null,
"transcript": "ENST00000476559.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476559.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*455_*456delAA",
"hgvs_p": null,
"transcript": "ENST00000482855.5",
"protein_id": "ENSP00000419276.1",
"transcript_support_level": 2,
"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": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.2557_2558delAA",
"hgvs_p": null,
"transcript": "ENST00000642170.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000642170.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*281_*282delAA",
"hgvs_p": null,
"transcript": "ENST00000642739.1",
"protein_id": "ENSP00000493596.1",
"transcript_support_level": null,
"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": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPGR",
"gene_hgnc_id": 10295,
"hgvs_c": "n.*553_*554delAA",
"hgvs_p": null,
"transcript": "ENST00000645124.1",
"protein_id": "ENSP00000496446.1",
"transcript_support_level": null,
"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": 2532,
"mane_select": null,
"mane_plus": null,
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],
"gene_symbol": "RPGR",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000328.3",
"gene_symbol": "RPGR",
"hgnc_id": 10295,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,XL",
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"hgvs_p": "p.Lys786fs"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000465127.1",
"gene_symbol": "ENSG00000250349",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.172-396404_172-396403delTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}