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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-120539349-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120539349&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120539349,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000371322.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Cys",
"transcript": "NM_001079872.2",
"protein_id": "NP_001073341.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 895,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000371322.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Cys",
"transcript": "ENST00000371322.11",
"protein_id": "ENSP00000360373.5",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 895,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_001079872.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1774C>T",
"hgvs_p": "p.Arg592Cys",
"transcript": "ENST00000681206.1",
"protein_id": "ENSP00000505480.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 933,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000680673.1",
"protein_id": "ENSP00000505084.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 913,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 24020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000681253.1",
"protein_id": "ENSP00000506259.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 913,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1714C>T",
"hgvs_p": "p.Arg572Cys",
"transcript": "ENST00000681652.1",
"protein_id": "ENSP00000505176.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 913,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys",
"transcript": "ENST00000336592.11",
"protein_id": "ENSP00000338919.6",
"transcript_support_level": 5,
"aa_start": 559,
"aa_end": null,
"aa_length": 900,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Cys",
"transcript": "ENST00000674137.11",
"protein_id": "ENSP00000501019.6",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 897,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523Cys",
"transcript": "ENST00000681090.1",
"protein_id": "ENSP00000506288.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 864,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Arg554Cys",
"transcript": "ENST00000404115.8",
"protein_id": "ENSP00000384109.4",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 844,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1926,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1315C>T",
"hgvs_p": "p.Arg439Cys",
"transcript": "ENST00000679927.1",
"protein_id": "ENSP00000505603.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 780,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1126C>T",
"hgvs_p": "p.Arg376Cys",
"transcript": "ENST00000371323.3",
"protein_id": "ENSP00000360374.3",
"transcript_support_level": 5,
"aa_start": 376,
"aa_end": null,
"aa_length": 717,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000680474.1",
"protein_id": "ENSP00000505562.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 685,
"cds_start": 1102,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2545,
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1107C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.1102C>T",
"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*869C>T",
"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,
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"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": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*869C>T",
"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": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*576C>T",
"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": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*869C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.1102C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.*1606C>T",
"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": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.1102C>T",
"hgvs_p": null,
"transcript": "ENST00000681869.1",
"protein_id": "ENSP00000505597.1",
"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": 1969,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "X-linked intellectual disability Cabezas type|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}