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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: 2-201700318-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201700318&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201700318,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "NM_020919.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "NM_020919.4",
"protein_id": "NP_065970.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "ENST00000264276.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000264276.11",
"protein_id": "ENSP00000264276.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": "NM_020919.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "NM_001410975.1",
"protein_id": "NP_001397904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1656,
"cds_start": -4,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "XM_006712654.4",
"protein_id": "XP_006712717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "XM_047445224.1",
"protein_id": "XP_047301180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "XM_006712655.4",
"protein_id": "XP_006712718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 969,
"cds_start": -4,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "XM_017004572.3",
"protein_id": "XP_016860061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000680497.1",
"protein_id": "ENSP00000505954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1691,
"cds_start": -4,
"cds_end": null,
"cds_length": 5076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000679516.1",
"protein_id": "ENSP00000505187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000680163.1",
"protein_id": "ENSP00000505092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000680861.1",
"protein_id": "ENSP00000505043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1657,
"cds_start": -4,
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"cds_length": 4974,
"cdna_start": null,
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"cdna_length": 6751,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000681619.1",
"protein_id": "ENSP00000505071.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000680759.1",
"protein_id": "ENSP00000505848.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1601,
"cds_start": -4,
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"cds_length": 4806,
"cdna_start": null,
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"cdna_length": 6432,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000681808.1",
"protein_id": "ENSP00000505219.1",
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000681558.1",
"protein_id": "ENSP00000505568.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "c.*1533C>T",
"hgvs_p": null,
"transcript": "ENST00000681495.1",
"protein_id": "ENSP00000506085.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*2687C>T",
"hgvs_p": null,
"transcript": "ENST00000439495.6",
"protein_id": "ENSP00000403832.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*248C>T",
"hgvs_p": null,
"transcript": "ENST00000679416.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 7763,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*1130C>T",
"hgvs_p": null,
"transcript": "ENST00000679435.1",
"protein_id": "ENSP00000505218.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "ALS2",
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"hgvs_c": "n.*3595C>T",
"hgvs_p": null,
"transcript": "ENST00000679618.1",
"protein_id": "ENSP00000506274.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*248C>T",
"hgvs_p": null,
"transcript": "ENST00000679630.1",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*249C>T",
"hgvs_p": null,
"transcript": "ENST00000679635.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALS2",
"gene_hgnc_id": 443,
"hgvs_c": "n.*244C>T",
"hgvs_p": null,
"transcript": "ENST00000679686.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6377,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_020919.4",
"gene_symbol": "ALS2",
"hgnc_id": 443,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1533C>T",
"hgvs_p": null
}
],
"clinvar_disease": " juvenile,ALS2-related disorder,Amyotrophic lateral sclerosis type 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "ALS2-related disorder|Amyotrophic lateral sclerosis type 2, juvenile",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}