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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: 17-75623840-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75623840&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75623840,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000645453.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.8142G>A",
"hgvs_p": "p.Thr2714Thr",
"transcript": "NM_001395058.1",
"protein_id": "NP_001381987.1",
"transcript_support_level": null,
"aa_start": 2714,
"aa_end": null,
"aa_length": 3096,
"cds_start": 8142,
"cds_end": null,
"cds_length": 9291,
"cdna_start": 8400,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "ENST00000645453.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.8142G>A",
"hgvs_p": "p.Thr2714Thr",
"transcript": "ENST00000645453.3",
"protein_id": "ENSP00000495242.3",
"transcript_support_level": null,
"aa_start": 2714,
"aa_end": null,
"aa_length": 3096,
"cds_start": 8142,
"cds_end": null,
"cds_length": 9291,
"cdna_start": 8400,
"cdna_end": null,
"cdna_length": 9914,
"mane_select": "NM_001395058.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.8028G>A",
"hgvs_p": "p.Thr2676Thr",
"transcript": "NM_001309242.2",
"protein_id": "NP_001296171.1",
"transcript_support_level": null,
"aa_start": 2676,
"aa_end": null,
"aa_length": 3058,
"cds_start": 8028,
"cds_end": null,
"cds_length": 9177,
"cdna_start": 8286,
"cdna_end": null,
"cdna_length": 9800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.3699G>A",
"hgvs_p": "p.Thr1233Thr",
"transcript": "ENST00000642007.2",
"protein_id": "ENSP00000492911.2",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1589,
"cds_start": 3699,
"cds_end": null,
"cds_length": 4770,
"cdna_start": 3789,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.372G>A",
"hgvs_p": "p.Thr124Thr",
"transcript": "ENST00000578220.5",
"protein_id": "ENSP00000487752.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 276,
"cds_start": 372,
"cds_end": null,
"cds_length": 833,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7488G>A",
"hgvs_p": "p.Thr2496Thr",
"transcript": "XM_017025120.3",
"protein_id": "XP_016880609.1",
"transcript_support_level": null,
"aa_start": 2496,
"aa_end": null,
"aa_length": 2878,
"cds_start": 7488,
"cds_end": null,
"cds_length": 8637,
"cdna_start": 7746,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7473G>A",
"hgvs_p": "p.Thr2491Thr",
"transcript": "XM_017025121.3",
"protein_id": "XP_016880610.1",
"transcript_support_level": null,
"aa_start": 2491,
"aa_end": null,
"aa_length": 2873,
"cds_start": 7473,
"cds_end": null,
"cds_length": 8622,
"cdna_start": 7731,
"cdna_end": null,
"cdna_length": 9245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7452G>A",
"hgvs_p": "p.Thr2484Thr",
"transcript": "XM_017025122.3",
"protein_id": "XP_016880611.1",
"transcript_support_level": null,
"aa_start": 2484,
"aa_end": null,
"aa_length": 2866,
"cds_start": 7452,
"cds_end": null,
"cds_length": 8601,
"cdna_start": 7710,
"cdna_end": null,
"cdna_length": 9224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7488G>A",
"hgvs_p": "p.Thr2496Thr",
"transcript": "XM_017025123.3",
"protein_id": "XP_016880612.1",
"transcript_support_level": null,
"aa_start": 2496,
"aa_end": null,
"aa_length": 2856,
"cds_start": 7488,
"cds_end": null,
"cds_length": 8571,
"cdna_start": 7746,
"cdna_end": null,
"cdna_length": 9194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7362G>A",
"hgvs_p": "p.Thr2454Thr",
"transcript": "XM_017025124.3",
"protein_id": "XP_016880613.1",
"transcript_support_level": null,
"aa_start": 2454,
"aa_end": null,
"aa_length": 2836,
"cds_start": 7362,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 7620,
"cdna_end": null,
"cdna_length": 9134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7212G>A",
"hgvs_p": "p.Thr2404Thr",
"transcript": "XM_017025125.3",
"protein_id": "XP_016880614.1",
"transcript_support_level": null,
"aa_start": 2404,
"aa_end": null,
"aa_length": 2786,
"cds_start": 7212,
"cds_end": null,
"cds_length": 8361,
"cdna_start": 7470,
"cdna_end": null,
"cdna_length": 8984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7488G>A",
"hgvs_p": "p.Thr2496Thr",
"transcript": "XM_047436788.1",
"protein_id": "XP_047292744.1",
"transcript_support_level": null,
"aa_start": 2496,
"aa_end": null,
"aa_length": 2719,
"cds_start": 7488,
"cds_end": null,
"cds_length": 8160,
"cdna_start": 7746,
"cdna_end": null,
"cdna_length": 8464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6801G>A",
"hgvs_p": "p.Thr2267Thr",
"transcript": "XM_017025127.3",
"protein_id": "XP_016880616.1",
"transcript_support_level": null,
"aa_start": 2267,
"aa_end": null,
"aa_length": 2649,
"cds_start": 6801,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 7059,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.6774G>A",
"hgvs_p": "p.Thr2258Thr",
"transcript": "XM_017025128.3",
"protein_id": "XP_016880617.1",
"transcript_support_level": null,
"aa_start": 2258,
"aa_end": null,
"aa_length": 2640,
"cds_start": 6774,
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"cds_length": 7923,
"cdna_start": 6789,
"cdna_end": null,
"cdna_length": 8303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.7488G>A",
"hgvs_p": "p.Thr2496Thr",
"transcript": "XM_047436789.1",
"protein_id": "XP_047292745.1",
"transcript_support_level": null,
"aa_start": 2496,
"aa_end": null,
"aa_length": 2582,
"cds_start": 7488,
"cds_end": null,
"cds_length": 7749,
"cdna_start": 7746,
"cdna_end": null,
"cdna_length": 8092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5925G>A",
"hgvs_p": "p.Thr1975Thr",
"transcript": "XM_017025129.3",
"protein_id": "XP_016880618.1",
"transcript_support_level": null,
"aa_start": 1975,
"aa_end": null,
"aa_length": 2357,
"cds_start": 5925,
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"cds_length": 7074,
"cdna_start": 6021,
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"cdna_length": 7535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5865G>A",
"hgvs_p": "p.Thr1955Thr",
"transcript": "XM_017025130.3",
"protein_id": "XP_016880619.1",
"transcript_support_level": null,
"aa_start": 1955,
"aa_end": null,
"aa_length": 2337,
"cds_start": 5865,
"cds_end": null,
"cds_length": 7014,
"cdna_start": 5977,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5760G>A",
"hgvs_p": "p.Thr1920Thr",
"transcript": "XM_017025131.3",
"protein_id": "XP_016880620.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2302,
"cds_start": 5760,
"cds_end": null,
"cds_length": 6909,
"cdna_start": 7447,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5682G>A",
"hgvs_p": "p.Thr1894Thr",
"transcript": "XM_047436790.1",
"protein_id": "XP_047292746.1",
"transcript_support_level": null,
"aa_start": 1894,
"aa_end": null,
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"cds_start": 5682,
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"cdna_start": 7350,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5613G>A",
"hgvs_p": "p.Thr1871Thr",
"transcript": "XM_047436791.1",
"protein_id": "XP_047292747.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 2253,
"cds_start": 5613,
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"cdna_start": 5842,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5535G>A",
"hgvs_p": "p.Thr1845Thr",
"transcript": "XM_047436792.1",
"protein_id": "XP_047292748.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 2227,
"cds_start": 5535,
"cds_end": null,
"cds_length": 6684,
"cdna_start": 7636,
"cdna_end": null,
"cdna_length": 9150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO15B",
"gene_hgnc_id": 14083,
"hgvs_c": "c.5157G>A",
"hgvs_p": "p.Thr1719Thr",
"transcript": "XM_047436793.1",
"protein_id": "XP_047292749.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5157,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5245,
"cdna_end": null,
"cdna_length": 6759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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{
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}
],
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"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.948,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000645453.3",
"gene_symbol": "MYO15B",
"hgnc_id": 14083,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.8142G>A",
"hgvs_p": "p.Thr2714Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}