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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: 2-190673836-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190673836&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NAB1",
"hgnc_id": 7626,
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_005966.4",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000228509",
"hgnc_id": null,
"hgvs_c": "n.968-1309G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000676095.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005966.4",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337386.10",
"protein_coding": true,
"protein_id": "NP_005957.2",
"strand": true,
"transcript": "NM_005966.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337386.10",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005966.4",
"protein_coding": true,
"protein_id": "ENSP00000336894.5",
"strand": true,
"transcript": "ENST00000337386.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409641.5",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386682.1",
"strand": true,
"transcript": "ENST00000409641.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903121.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1038+684C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573180.1",
"strand": true,
"transcript": "ENST00000903121.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321312.2",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308241.1",
"strand": true,
"transcript": "NM_001321312.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3993,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321313.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308242.1",
"strand": true,
"transcript": "NM_001321313.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409581.5",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387089.1",
"strand": true,
"transcript": "ENST00000409581.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903108.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573167.1",
"strand": true,
"transcript": "ENST00000903108.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 487,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903109.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573168.1",
"strand": true,
"transcript": "ENST00000903109.1",
"transcript_support_level": null
},
{
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"aa_length": 487,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": null,
"cds_end": null,
"cds_length": 1464,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903110.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573169.1",
"strand": true,
"transcript": "ENST00000903110.1",
"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": 4197,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 9,
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"feature": "ENST00000903111.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573170.1",
"strand": true,
"transcript": "ENST00000903111.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000903112.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573171.1",
"strand": true,
"transcript": "ENST00000903112.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000903113.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
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"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573172.1",
"strand": true,
"transcript": "ENST00000903113.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000903116.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573175.1",
"strand": true,
"transcript": "ENST00000903116.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000903118.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573177.1",
"strand": true,
"transcript": "ENST00000903118.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000903119.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573178.1",
"strand": true,
"transcript": "ENST00000903119.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000903120.1",
"gene_hgnc_id": 7626,
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"hgvs_c": "c.1005+684C>T",
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"mane_plus": null,
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"strand": true,
"transcript": "ENST00000903120.1",
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},
{
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],
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"feature": "ENST00000903122.1",
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"protein_coding": true,
"protein_id": "ENSP00000573181.1",
"strand": true,
"transcript": "ENST00000903122.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000903123.1",
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"protein_coding": true,
"protein_id": "ENSP00000573182.1",
"strand": true,
"transcript": "ENST00000903123.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903126.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573185.1",
"strand": true,
"transcript": "ENST00000903126.1",
"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": 4576,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903128.1",
"gene_hgnc_id": 7626,
"gene_symbol": "NAB1",
"hgvs_c": "c.1005+684C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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