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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: 11-111853410-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111853410&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111853410,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000616540.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_024740.2",
"protein_id": "NP_079016.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 618,
"cds_start": 865,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": "ENST00000616540.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "ENST00000616540.5",
"protein_id": "ENSP00000482437.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 618,
"cds_start": 865,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": "NM_024740.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "ENSG00000258529",
"gene_hgnc_id": null,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "ENST00000622211.4",
"protein_id": "ENSP00000482396.1",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 844,
"cds_start": 1564,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "ENST00000614444.4",
"protein_id": "ENSP00000484200.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 611,
"cds_start": 865,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "ENST00000398006.6",
"protein_id": "ENSP00000381090.2",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 440,
"cds_start": 352,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1261,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001441203.1",
"protein_id": "NP_001428132.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 629,
"cds_start": 865,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001352417.1",
"protein_id": "NP_001339346.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 622,
"cds_start": 865,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001077690.1",
"protein_id": "NP_001071158.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 611,
"cds_start": 865,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001441204.1",
"protein_id": "NP_001428133.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 598,
"cds_start": 865,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001441205.1",
"protein_id": "NP_001428134.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 591,
"cds_start": 865,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001441206.1",
"protein_id": "NP_001428135.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 577,
"cds_start": 865,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 964,
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"cdna_length": 6035,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Val289Ile",
"transcript": "NM_001352418.1",
"protein_id": "NP_001339347.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 570,
"cds_start": 865,
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"cdna_start": 964,
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"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352419.1",
"protein_id": "NP_001339348.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 458,
"cds_start": 352,
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"cds_length": 1377,
"cdna_start": 1241,
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},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "ALG9",
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"hgvs_c": "c.352G>A",
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"transcript": "NM_001352415.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352416.1",
"protein_id": "NP_001339345.1",
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"aa_start": 118,
"aa_end": null,
"aa_length": 451,
"cds_start": 352,
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"cdna_start": 1241,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"intron_rank": null,
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"gene_symbol": "ALG9",
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"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001077691.2",
"protein_id": "NP_001071159.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352413.1",
"protein_id": "NP_001339342.1",
"transcript_support_level": null,
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"cds_start": 352,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352414.2",
"protein_id": "NP_001339343.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
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"cds_start": 352,
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},
{
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"intron_rank": null,
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"gene_symbol": "ALG9",
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"transcript": "ENST00000531154.5",
"protein_id": "ENSP00000435517.1",
"transcript_support_level": 2,
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},
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"strand": false,
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"intron_rank": null,
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"gene_symbol": "ALG9",
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"hgvs_p": "p.Val118Ile",
"transcript": "NM_001077692.2",
"protein_id": "NP_001071160.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "ALG9",
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"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352409.1",
"protein_id": "NP_001339338.1",
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"aa_start": 118,
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"aa_length": 440,
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"cdna_start": 825,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001352410.1",
"protein_id": "NP_001339339.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 440,
"cds_start": 352,
"cds_end": null,
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"cdna_start": 968,
"cdna_end": null,
"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.352G>A",
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"transcript": "ENST00000622211.4",
"gene_symbol": "ENSG00000258529",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile"
}
],
"clinvar_disease": "ALG9 congenital disorder of glycosylation,Gillessen-Kaesbach-Nishimura syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|ALG9 congenital disorder of glycosylation|Gillessen-Kaesbach-Nishimura syndrome|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}