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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: 9-114478665-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=114478665&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 114478665,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000362057.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_015404.4",
"protein_id": "NP_056219.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 907,
"cds_start": 725,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "ENST00000362057.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000362057.4",
"protein_id": "ENSP00000354623.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 907,
"cds_start": 725,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": "NM_015404.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.-425G>A",
"hgvs_p": null,
"transcript": "ENST00000265134.10",
"protein_id": "ENSP00000265134.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "NM_001173425.2",
"protein_id": "NP_001166896.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 906,
"cds_start": 725,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000674036.9",
"protein_id": "ENSP00000501297.5",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 837,
"cds_start": 725,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000699486.2",
"protein_id": "ENSP00000514397.2",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 571,
"cds_start": 725,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "ENST00000374057.3",
"protein_id": "ENSP00000363170.3",
"transcript_support_level": 2,
"aa_start": 242,
"aa_end": null,
"aa_length": 345,
"cds_start": 725,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1374,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011518485.2",
"protein_id": "XP_011516787.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 918,
"cds_start": 725,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011518486.3",
"protein_id": "XP_011516788.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 917,
"cds_start": 725,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423161.1",
"protein_id": "XP_047279117.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 907,
"cds_start": 725,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423163.1",
"protein_id": "XP_047279119.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 906,
"cds_start": 725,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011518487.3",
"protein_id": "XP_011516789.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 876,
"cds_start": 725,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 3977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423164.1",
"protein_id": "XP_047279120.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 865,
"cds_start": 725,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423165.1",
"protein_id": "XP_047279121.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 864,
"cds_start": 725,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423166.1",
"protein_id": "XP_047279122.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 837,
"cds_start": 725,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423167.1",
"protein_id": "XP_047279123.1",
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"aa_start": 242,
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"cdna_start": 1397,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423168.1",
"protein_id": "XP_047279124.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 795,
"cds_start": 725,
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"cdna_start": 1254,
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"cdna_length": 3591,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423169.1",
"protein_id": "XP_047279125.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 794,
"cds_start": 725,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1397,
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"cdna_length": 3731,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423170.1",
"protein_id": "XP_047279126.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423171.1",
"protein_id": "XP_047279127.1",
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"aa_start": 242,
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"aa_length": 609,
"cds_start": 725,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_047423173.1",
"protein_id": "XP_047279129.1",
"transcript_support_level": null,
"aa_start": 242,
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"cds_start": 725,
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"cdna_start": 1254,
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"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011518491.4",
"protein_id": "XP_011516793.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 571,
"cds_start": 725,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WHRN",
"gene_hgnc_id": 16361,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242His",
"transcript": "XM_011518492.3",
"protein_id": "XP_011516794.1",
"transcript_support_level": null,
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],
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"hom_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.799,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000362057.4",
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"effects": [
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}