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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: 4-102529823-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102529823&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NFKB1",
"hgnc_id": 7794,
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_003998.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_score": -8,
"allele_count_reference_population": 72,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"chr": "4",
"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": -0.44999998807907104,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003998.4",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000226574.9",
"protein_coding": true,
"protein_id": "NP_003989.2",
"strand": true,
"transcript": "NM_003998.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4055,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000226574.9",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003998.4",
"protein_coding": true,
"protein_id": "ENSP00000226574.4",
"strand": true,
"transcript": "ENST00000226574.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 968,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": null,
"cds_end": null,
"cds_length": 2907,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394820.8",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378297.4",
"strand": true,
"transcript": "ENST00000394820.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 968,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": null,
"cds_end": null,
"cds_length": 2907,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505458.5",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424790.1",
"strand": true,
"transcript": "ENST00000505458.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 982,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": null,
"cds_end": null,
"cds_length": 2949,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938144.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608203.1",
"strand": true,
"transcript": "ENST00000938144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 977,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": null,
"cds_end": null,
"cds_length": 2934,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507079.6",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.64-13T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426147.2",
"strand": true,
"transcript": "ENST00000507079.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382625.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369554.1",
"strand": true,
"transcript": "NM_001382625.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 969,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382626.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369555.1",
"strand": true,
"transcript": "NM_001382626.1",
"transcript_support_level": null
},
{
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"aa_length": 969,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000509165.2",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423877.2",
"strand": true,
"transcript": "ENST00000509165.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_length": 969,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": null,
"cds_end": null,
"cds_length": 2910,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878343.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548402.1",
"strand": true,
"transcript": "ENST00000878343.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000966665.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636724.1",
"strand": true,
"transcript": "ENST00000966665.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000966666.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000636725.1",
"strand": true,
"transcript": "ENST00000966666.1",
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},
{
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"feature": "NM_001165412.2",
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"protein_coding": true,
"protein_id": "NP_001158884.1",
"strand": true,
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_001319226.2",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001306155.1",
"strand": true,
"transcript": "NM_001319226.2",
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},
{
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],
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"feature": "NM_001382627.1",
"gene_hgnc_id": 7794,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001369556.1",
"strand": true,
"transcript": "NM_001382627.1",
"transcript_support_level": null
},
{
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"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
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"feature": "ENST00000878340.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000548399.1",
"strand": true,
"transcript": "ENST00000878340.1",
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},
{
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"canonical": false,
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"cds_start": null,
"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000966660.1",
"gene_hgnc_id": 7794,
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000966663.1",
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"strand": true,
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},
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],
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"feature": "ENST00000966664.1",
"gene_hgnc_id": 7794,
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"protein_coding": true,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000878341.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548400.1",
"strand": true,
"transcript": "ENST00000878341.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2901,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938143.1",
"gene_hgnc_id": 7794,
"gene_symbol": "NFKB1",
"hgvs_c": "c.40-13T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608202.1",
"strand": true,
"transcript": "ENST00000938143.1",
"transcript_support_level": null
},
{
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