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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: 8-18213491-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18213491&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NAT1",
"hgnc_id": 7645,
"hgvs_c": "c.-18+2149C>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001160175.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 22792,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000662.8",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+3311C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000307719.9",
"protein_coding": true,
"protein_id": "NP_000653.3",
"strand": true,
"transcript": "NM_000662.8",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000307719.9",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+3311C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000662.8",
"protein_coding": true,
"protein_id": "ENSP00000307218.4",
"strand": true,
"transcript": "ENST00000307719.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2162,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518029.5",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+717C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428270.1",
"strand": true,
"transcript": "ENST00000518029.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000519006.5",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "n.442+717C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000519006.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160175.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-18+2149C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153647.1",
"strand": true,
"transcript": "NM_001160175.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160176.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-18+3311C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153648.1",
"strand": true,
"transcript": "NM_001160176.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001291962.2",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-17-3386C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278891.1",
"strand": true,
"transcript": "NM_001291962.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 352,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": null,
"cds_end": null,
"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545197.3",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-18+2149C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443194.1",
"strand": true,
"transcript": "ENST00000545197.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160170.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+717C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153642.1",
"strand": true,
"transcript": "NM_001160170.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160171.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+717C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153643.1",
"strand": true,
"transcript": "NM_001160171.4",
"transcript_support_level": null
},
{
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"aa_length": 290,
"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2104,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001160172.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+946C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001153644.1",
"strand": true,
"transcript": "NM_001160172.4",
"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": 1949,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
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],
"exon_count": 4,
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"feature": "NM_001160173.4",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+2149C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001153645.1",
"strand": true,
"transcript": "NM_001160173.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "NM_001160179.3",
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"gene_symbol": "NAT1",
"hgvs_c": "c.-86+3536C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001153651.1",
"strand": true,
"transcript": "NM_001160179.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517492.5",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+717C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429407.1",
"strand": true,
"transcript": "ENST00000517492.5",
"transcript_support_level": 2
},
{
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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": [
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],
"exon_count": 6,
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"feature": "ENST00000903000.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-203-3386C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573059.1",
"strand": true,
"transcript": "ENST00000903000.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2026,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903001.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-203-3386C>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573060.1",
"strand": true,
"transcript": "ENST00000903001.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903002.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+3536C>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573061.1",
"strand": true,
"transcript": "ENST00000903002.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000903003.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-204+3311C>G",
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"protein_coding": true,
"protein_id": "ENSP00000573062.1",
"strand": true,
"transcript": "ENST00000903003.1",
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},
{
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],
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"feature": "ENST00000903004.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+946C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573063.1",
"strand": true,
"transcript": "ENST00000903004.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000903005.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+2149C>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573064.1",
"strand": true,
"transcript": "ENST00000903005.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903006.1",
"gene_hgnc_id": 7645,
"gene_symbol": "NAT1",
"hgvs_c": "c.-86+3536C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573065.1",
"strand": true,
"transcript": "ENST00000903006.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
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