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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: 6-6588822-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=6588822&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LY86",
"hgnc_id": 16837,
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004271.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LY86-AS1",
"hgnc_id": 26593,
"hgvs_c": "n.114-19333G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000429345.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.7256,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8279610276222229,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 162,
"aa_ref": "H",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 103,
"cds_end": null,
"cds_length": 489,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_004271.4",
"gene_hgnc_id": 16837,
"gene_symbol": "LY86",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230568.5",
"protein_coding": true,
"protein_id": "NP_004262.1",
"strand": true,
"transcript": "NM_004271.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 162,
"aa_ref": "H",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 103,
"cds_end": null,
"cds_length": 489,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000230568.5",
"gene_hgnc_id": 16837,
"gene_symbol": "LY86",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004271.4",
"protein_coding": true,
"protein_id": "ENSP00000230568.3",
"strand": true,
"transcript": "ENST00000230568.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 169,
"aa_ref": "H",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": 155,
"cds_end": null,
"cds_length": 510,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901320.1",
"gene_hgnc_id": 16837,
"gene_symbol": "LY86",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571379.1",
"strand": true,
"transcript": "ENST00000901320.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 162,
"aa_ref": "H",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1197,
"cdna_start": 440,
"cds_end": null,
"cds_length": 489,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000379953.6",
"gene_hgnc_id": 16837,
"gene_symbol": "LY86",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369286.1",
"strand": true,
"transcript": "ENST00000379953.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 161,
"aa_ref": "H",
"aa_start": 30,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 850,
"cdna_start": 97,
"cds_end": null,
"cds_length": 486,
"cds_start": 88,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901321.1",
"gene_hgnc_id": 16837,
"gene_symbol": "LY86",
"hgvs_c": "c.88C>T",
"hgvs_p": "p.His30Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571380.1",
"strand": true,
"transcript": "ENST00000901321.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429345.5",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.114-19333G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000429345.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435641.5",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.388+2334G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000435641.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000653438.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.110-24434G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000653438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000655679.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.126-24434G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000655679.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000658580.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.103-19333G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000658580.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000665459.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.69-19333G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000665459.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
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"feature": "ENST00000669477.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.770-24434G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000669477.1",
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},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"consequences": [
"intron_variant"
],
"exon_count": 8,
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"feature": "ENST00000753058.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.119-24434G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753058.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1503,
"cdna_start": null,
"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000753059.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.161-24434G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000753059.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000753060.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.143-19333G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753060.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000753061.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.132-24434G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753061.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000753062.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.120-24434G>A",
"hgvs_p": null,
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"strand": false,
"transcript": "ENST00000753062.1",
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},
{
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"biotype": "pseudogene",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000753063.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.120-19333G>A",
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"strand": false,
"transcript": "ENST00000753063.1",
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},
{
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"biotype": "pseudogene",
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"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000753064.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.111+33810G>A",
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"strand": false,
"transcript": "ENST00000753064.1",
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},
{
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"biotype": "pseudogene",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753065.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.114-24434G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753065.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000753066.1",
"gene_hgnc_id": 26593,
"gene_symbol": "LY86-AS1",
"hgvs_c": "n.104-19333G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000753066.1",
"transcript_support_level": null
},
{
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