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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: 16-58500126-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=58500126&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "NDRG4",
"hgnc_id": 14466,
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "ENST00000566192.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 3617,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": null,
"cds_end": null,
"cds_length": 1020,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000566192.5",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454410.1",
"strand": true,
"transcript": "ENST00000566192.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": null,
"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394282.8",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377823.4",
"strand": true,
"transcript": "ENST00000394282.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000258187.9",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258187.5",
"strand": true,
"transcript": "ENST00000258187.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1281,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000568640.5",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456338.1",
"strand": true,
"transcript": "ENST00000568640.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 142,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 590,
"cdna_start": null,
"cds_end": null,
"cds_length": 431,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000565088.5",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.-123A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457413.1",
"strand": true,
"transcript": "ENST00000565088.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 434,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": null,
"cds_end": null,
"cds_length": 1305,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378332.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-862A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365261.1",
"strand": true,
"transcript": "NM_001378332.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378333.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-3618A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365262.1",
"strand": true,
"transcript": "NM_001378333.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378334.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-862A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365263.1",
"strand": true,
"transcript": "NM_001378334.1",
"transcript_support_level": null
},
{
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"aa_length": 409,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378335.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-3618A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365264.1",
"strand": true,
"transcript": "NM_001378335.1",
"transcript_support_level": null
},
{
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"aa_length": 404,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": null,
"cds_end": null,
"cds_length": 1215,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378336.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365265.1",
"strand": true,
"transcript": "NM_001378336.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378337.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.157-3618A>G",
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"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365266.1",
"strand": true,
"transcript": "NM_001378337.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "NM_001378338.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3618A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365267.1",
"strand": true,
"transcript": "NM_001378338.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "NM_001378339.1",
"gene_hgnc_id": 14466,
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"protein_coding": true,
"protein_id": "NP_001365268.1",
"strand": true,
"transcript": "NM_001378339.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "NM_001378340.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-862A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365269.1",
"strand": true,
"transcript": "NM_001378340.1",
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},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "NM_001378341.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.157-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365270.1",
"strand": true,
"transcript": "NM_001378341.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001130487.2",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.178-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001123959.1",
"strand": true,
"transcript": "NM_001130487.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": null,
"cds_end": null,
"cds_length": 1170,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "NM_001378342.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3618A>G",
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"protein_coding": true,
"protein_id": "NP_001365271.1",
"strand": true,
"transcript": "NM_001378342.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_001378343.1",
"gene_hgnc_id": 14466,
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"protein_id": "NP_001365272.1",
"strand": true,
"transcript": "NM_001378343.1",
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},
{
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"consequences": [
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],
"exon_count": 17,
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"feature": "NM_001378345.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3672A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365274.1",
"strand": true,
"transcript": "NM_001378345.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378346.1",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3672A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365275.1",
"strand": true,
"transcript": "NM_001378346.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3265,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020465.4",
"gene_hgnc_id": 14466,
"gene_symbol": "NDRG4",
"hgvs_c": "c.118-3672A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065198.1",
"strand": true,
"transcript": "NM_020465.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
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