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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: 3-47062372-TTT-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47062372&ref=TTT&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SETD2",
"hgnc_id": 18420,
"hgvs_c": "c.6110-27_6110-26delAA",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_014159.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BA1",
"acmg_score": -16,
"allele_count_reference_population": 95462,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Luscan-Lumish syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": 7695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014159.7",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.6110-27_6110-26delAA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409792.4",
"protein_coding": true,
"protein_id": "NP_054878.5",
"strand": false,
"transcript": "NM_014159.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": null,
"cds_end": null,
"cds_length": 7695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409792.4",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.6110-27_6110-26delAA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014159.7",
"protein_coding": true,
"protein_id": "ENSP00000386759.3",
"strand": false,
"transcript": "ENST00000409792.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000330022.11",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.*1833-27_*1833-26delAA",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000332415.7",
"strand": false,
"transcript": "ENST00000330022.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2538,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8437,
"cdna_start": null,
"cds_end": null,
"cds_length": 7617,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000952253.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.6032-27_6032-26delAA",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622312.1",
"strand": false,
"transcript": "ENST00000952253.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8525,
"cdna_start": null,
"cds_end": null,
"cds_length": 7563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349370.3",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5978-27_5978-26delAA",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336299.1",
"strand": false,
"transcript": "NM_001349370.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8302,
"cdna_start": null,
"cds_end": null,
"cds_length": 7563,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638947.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5978-27_5978-26delAA",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491413.2",
"strand": false,
"transcript": "ENST00000638947.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8109,
"cdna_start": null,
"cds_end": null,
"cds_length": 7461,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685005.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5876-27_5876-26delAA",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509568.1",
"strand": false,
"transcript": "ENST00000685005.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5076,
"cdna_start": null,
"cds_end": null,
"cds_length": 4410,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000686876.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.2825-27_2825-26delAA",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509591.1",
"strand": false,
"transcript": "ENST00000686876.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1348,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": null,
"cds_end": null,
"cds_length": 4047,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000690157.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.2462-27_2462-26delAA",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509438.1",
"strand": false,
"transcript": "ENST00000690157.1",
"transcript_support_level": null
},
{
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"aa_length": 1162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": null,
"cds_end": null,
"cds_length": 3489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691902.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.1904-27_1904-26delAA",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510234.1",
"strand": false,
"transcript": "ENST00000691902.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893753.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.1727-27_1727-26delAA",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563812.1",
"strand": false,
"transcript": "ENST00000893753.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3180,
"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
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"feature": "ENST00000952254.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.1595-27_1595-26delAA",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622313.1",
"strand": false,
"transcript": "ENST00000952254.1",
"transcript_support_level": null
},
{
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"consequences": [
"intron_variant"
],
"exon_count": 17,
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"feature": "ENST00000952255.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.1466-27_1466-26delAA",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622314.1",
"strand": false,
"transcript": "ENST00000952255.1",
"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": 3416,
"cdna_start": null,
"cds_end": null,
"cds_length": 2751,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691544.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.1166-27_1166-26delAA",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510710.1",
"strand": false,
"transcript": "ENST00000691544.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "XM_047448045.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5978-27_5978-26delAA",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304001.1",
"strand": false,
"transcript": "XM_047448045.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8187,
"cdna_start": null,
"cds_end": null,
"cds_length": 7428,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024453487.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5843-27_5843-26delAA",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309255.1",
"strand": false,
"transcript": "XM_024453487.2",
"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": 7981,
"cdna_start": null,
"cds_end": null,
"cds_length": 7263,
"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024453488.2",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "c.5678-27_5678-26delAA",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024309256.1",
"strand": false,
"transcript": "XM_024453488.2",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000431180.5",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.*1435-27_*1435-26delAA",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000388349.1",
"strand": false,
"transcript": "ENST00000431180.5",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
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"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000445387.5",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.*60-27_*60-26delAA",
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"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411901.1",
"strand": false,
"transcript": "ENST00000445387.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 746,
"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": "ENST00000492397.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.560-27_560-26delAA",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492397.1",
"transcript_support_level": 3
},
{
"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": 5152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685237.1",
"gene_hgnc_id": 18420,
"gene_symbol": "SETD2",
"hgvs_c": "n.2919-27_2919-26delAA",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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