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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: 4-170086353-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=170086353&ref=C&alt=T&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": "AADAT",
"hgnc_id": 17929,
"hgvs_c": "c.381+763G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001286682.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000296173",
"hgnc_id": null,
"hgvs_c": "n.229+1297C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000737089.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15566,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016228.4",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337664.9",
"protein_coding": true,
"protein_id": "NP_057312.1",
"strand": false,
"transcript": "NM_016228.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337664.9",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016228.4",
"protein_coding": true,
"protein_id": "ENSP00000336808.4",
"strand": false,
"transcript": "ENST00000337664.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509167.5",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.381+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423190.1",
"strand": false,
"transcript": "ENST00000509167.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515480.5",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423341.1",
"strand": false,
"transcript": "ENST00000515480.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286682.2",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.381+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273611.1",
"strand": false,
"transcript": "NM_001286682.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 429,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": null,
"cds_end": null,
"cds_length": 1290,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883571.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.381+763G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553630.1",
"strand": false,
"transcript": "ENST00000883571.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286683.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273612.1",
"strand": false,
"transcript": "NM_001286683.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_182662.2",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_872603.1",
"strand": false,
"transcript": "NM_182662.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353187.6",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000226840.4",
"strand": false,
"transcript": "ENST00000353187.6",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": 425,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969295.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639354.1",
"strand": false,
"transcript": "ENST00000969295.1",
"transcript_support_level": null
},
{
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"aa_length": 416,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": null,
"cds_end": null,
"cds_length": 1251,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883573.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.381+763G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553632.1",
"strand": false,
"transcript": "ENST00000883573.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000918894.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000588953.1",
"strand": false,
"transcript": "ENST00000918894.1",
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},
{
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],
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"feature": "ENST00000918895.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588954.1",
"strand": false,
"transcript": "ENST00000918895.1",
"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": 1967,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000883572.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553631.1",
"strand": false,
"transcript": "ENST00000883572.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000510340.5",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.342+763G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000425067.1",
"strand": false,
"transcript": "ENST00000510340.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"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,
"exon_rank": null,
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"feature": "ENST00000507375.5",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000421389.1",
"strand": false,
"transcript": "ENST00000507375.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
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"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": 7,
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"feature": "ENST00000502392.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000423843.1",
"strand": false,
"transcript": "ENST00000502392.1",
"transcript_support_level": 3
},
{
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"consequences": [
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],
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"feature": "XM_006714231.3",
"gene_hgnc_id": 17929,
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"hgvs_c": "c.486+763G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006714294.1",
"strand": false,
"transcript": "XM_006714231.3",
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},
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"consequences": [
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],
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"feature": "XM_024454077.2",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024309845.1",
"strand": false,
"transcript": "XM_024454077.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1278,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047415763.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "c.369+763G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271719.1",
"strand": false,
"transcript": "XM_047415763.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 629,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000505906.1",
"gene_hgnc_id": 17929,
"gene_symbol": "AADAT",
"hgvs_c": "n.168+763G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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