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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-120542981-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120542981&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120542981,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001079872.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"transcript": "NM_001079872.2",
"protein_id": "NP_001073341.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 895,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000371322.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"transcript": "ENST00000371322.11",
"protein_id": "ENSP00000360373.5",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 895,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_001079872.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Ala475Thr",
"transcript": "ENST00000681206.1",
"protein_id": "ENSP00000505480.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 933,
"cds_start": 1423,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Ala455Thr",
"transcript": "ENST00000680673.1",
"protein_id": "ENSP00000505084.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 913,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 24020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Ala455Thr",
"transcript": "ENST00000681253.1",
"protein_id": "ENSP00000506259.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 913,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1363G>A",
"hgvs_p": "p.Ala455Thr",
"transcript": "ENST00000681652.1",
"protein_id": "ENSP00000505176.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 913,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Ala442Thr",
"transcript": "ENST00000336592.11",
"protein_id": "ENSP00000338919.6",
"transcript_support_level": 5,
"aa_start": 442,
"aa_end": null,
"aa_length": 900,
"cds_start": 1324,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"transcript": "ENST00000674137.11",
"protein_id": "ENSP00000501019.6",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 897,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Ala406Thr",
"transcript": "ENST00000681090.1",
"protein_id": "ENSP00000506288.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 864,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1309G>A",
"hgvs_p": "p.Ala437Thr",
"transcript": "ENST00000404115.8",
"protein_id": "ENSP00000384109.4",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 844,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "ENST00000679927.1",
"protein_id": "ENSP00000505603.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 780,
"cds_start": 964,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Ala259Thr",
"transcript": "ENST00000371323.3",
"protein_id": "ENSP00000360374.3",
"transcript_support_level": 5,
"aa_start": 259,
"aa_end": null,
"aa_length": 717,
"cds_start": 775,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Ala251Thr",
"transcript": "ENST00000680474.1",
"protein_id": "ENSP00000505562.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 685,
"cds_start": 751,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Ala251Thr",
"transcript": "ENST00000679844.1",
"protein_id": "ENSP00000505239.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 674,
"cds_start": 751,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*756G>A",
"hgvs_p": null,
"transcript": "ENST00000673919.1",
"protein_id": "ENSP00000500994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.751G>A",
"hgvs_p": null,
"transcript": "ENST00000674073.2",
"protein_id": "ENSP00000501262.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*518G>A",
"hgvs_p": null,
"transcript": "ENST00000679405.1",
"protein_id": "ENSP00000504985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*518G>A",
"hgvs_p": null,
"transcript": "ENST00000679432.1",
"protein_id": "ENSP00000505343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*225G>A",
"hgvs_p": null,
"transcript": "ENST00000680918.1",
"protein_id": "ENSP00000505955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*518G>A",
"hgvs_p": null,
"transcript": "ENST00000681080.1",
"protein_id": "ENSP00000505898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.751G>A",
"hgvs_p": null,
"transcript": "ENST00000681189.1",
"protein_id": "ENSP00000505973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*258G>A",
"hgvs_p": null,
"transcript": "ENST00000681333.1",
"protein_id": "ENSP00000505739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.058,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001079872.2",
"gene_symbol": "CUL4B",
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "Inborn genetic diseases,X-linked intellectual disability Cabezas type,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not specified|X-linked intellectual disability Cabezas type|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}