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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-53615815-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53615815&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53615815,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262854.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4374,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 4374,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4374,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 660,
"aa_end": null,
"aa_length": 4374,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 14796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4373,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 14728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4373,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1999G>A",
"hgvs_p": "p.Gly667Arg",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 4366,
"cds_start": 1999,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 14707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1999G>A",
"hgvs_p": "p.Gly667Arg",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 4366,
"cds_start": 1999,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 2424,
"cdna_end": null,
"cdna_length": 14739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 660,
"aa_end": null,
"aa_length": 4365,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13098,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 14311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4359,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 14686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4359,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 14718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4358,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4358,
"cds_start": 1978,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4358,
"cds_start": 1978,
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"cdna_start": 2268,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4302,
"cds_start": 1978,
"cds_end": null,
"cds_length": 12909,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 14522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.1978G>A",
"hgvs_p": "p.Gly660Arg",
"transcript": "NM_001441052.1",
"protein_id": "NP_001427981.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 4240,
"cds_start": 1978,
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"cdna_start": 2403,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4464,
"cds_start": 2248,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 15033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4464,
"cds_start": 2248,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 2641,
"cdna_end": null,
"cdna_length": 15001,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4464,
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"cdna_start": 2745,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_017029203.2",
"protein_id": "XP_016884692.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4464,
"cds_start": 2248,
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"cdna_start": 2538,
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"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_047441711.1",
"protein_id": "XP_047297667.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4464,
"cds_start": 2248,
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"cdna_start": 2567,
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"cdna_length": 14927,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_047441712.1",
"protein_id": "XP_047297668.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 4463,
"cds_start": 2248,
"cds_end": null,
"cds_length": 13392,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 15030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2227G>A",
"hgvs_p": "p.Gly743Arg",
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"verdict": "Likely_pathogenic",
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual disability, X-linked syndromic, Turner type",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}