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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: 14-67165197-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67165197&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67165197,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000478722.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1946G>T",
"hgvs_p": "p.Gly649Val",
"transcript": "NM_020806.5",
"protein_id": "NP_065857.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 769,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "ENST00000478722.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1946G>T",
"hgvs_p": "p.Gly649Val",
"transcript": "ENST00000478722.6",
"protein_id": "ENSP00000417901.1",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 769,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": "NM_020806.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1847G>T",
"hgvs_p": "p.Gly616Val",
"transcript": "ENST00000315266.9",
"protein_id": "ENSP00000312771.5",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 736,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2006G>T",
"hgvs_p": "p.Gly669Val",
"transcript": "NM_001377514.1",
"protein_id": "NP_001364443.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 789,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "ENST00000543237.5",
"protein_id": "ENSP00000438404.1",
"transcript_support_level": 2,
"aa_start": 662,
"aa_end": null,
"aa_length": 782,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1976G>T",
"hgvs_p": "p.Gly659Val",
"transcript": "NM_001377515.1",
"protein_id": "NP_001364444.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 779,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2357,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1967G>T",
"hgvs_p": "p.Gly656Val",
"transcript": "NM_001377516.1",
"protein_id": "NP_001364445.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 776,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1919G>T",
"hgvs_p": "p.Gly640Val",
"transcript": "NM_001377517.1",
"protein_id": "NP_001364446.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 760,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Gly635Val",
"transcript": "NM_001377518.1",
"protein_id": "NP_001364447.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 755,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1886G>T",
"hgvs_p": "p.Gly629Val",
"transcript": "NM_001377519.1",
"protein_id": "NP_001364448.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 749,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1847G>T",
"hgvs_p": "p.Gly616Val",
"transcript": "NM_001024218.2",
"protein_id": "NP_001019389.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 736,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.422G>T",
"hgvs_p": "p.Gly141Val",
"transcript": "ENST00000555503.1",
"protein_id": "ENSP00000452009.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 201,
"cds_start": 422,
"cds_end": null,
"cds_length": 606,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2114G>T",
"hgvs_p": "p.Gly705Val",
"transcript": "XM_011536340.4",
"protein_id": "XP_011534642.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 825,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2105G>T",
"hgvs_p": "p.Gly702Val",
"transcript": "XM_017020913.3",
"protein_id": "XP_016876402.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 822,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2075G>T",
"hgvs_p": "p.Gly692Val",
"transcript": "XM_011536342.4",
"protein_id": "XP_011534644.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 812,
"cds_start": 2075,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2057G>T",
"hgvs_p": "p.Gly686Val",
"transcript": "XM_017020914.3",
"protein_id": "XP_016876403.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 806,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2042G>T",
"hgvs_p": "p.Gly681Val",
"transcript": "XM_011536343.4",
"protein_id": "XP_011534645.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 801,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2018G>T",
"hgvs_p": "p.Gly673Val",
"transcript": "XM_047430875.1",
"protein_id": "XP_047286831.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 793,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2399,
"cdna_end": null,
"cdna_length": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2015G>T",
"hgvs_p": "p.Gly672Val",
"transcript": "XM_011536344.4",
"protein_id": "XP_011534646.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 792,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.2003G>T",
"hgvs_p": "p.Gly668Val",
"transcript": "XM_047430876.1",
"protein_id": "XP_047286832.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 788,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 3614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1985G>T",
"hgvs_p": "p.Gly662Val",
"transcript": "XM_011536345.4",
"protein_id": "XP_011534647.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 782,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 3596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1958G>T",
"hgvs_p": "p.Gly653Val",
"transcript": "XM_017020917.3",
"protein_id": "XP_016876406.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 773,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1943G>T",
"hgvs_p": "p.Gly648Val",
"transcript": "XM_017020918.3",
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{
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
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{
"score": 4,
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],
"verdict": "Uncertain_significance",
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],
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},
{
"score": 4,
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],
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}
],
"clinvar_disease": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}