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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: 11-68164294-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68164294&ref=G&alt=A&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": "KMT5B",
"hgnc_id": 24283,
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_017635.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 82225,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 885,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5718,
"cdna_start": null,
"cds_end": null,
"cds_length": 2658,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017635.5",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304363.9",
"protein_coding": true,
"protein_id": "NP_060105.3",
"strand": false,
"transcript": "NM_017635.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 885,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5718,
"cdna_start": null,
"cds_end": null,
"cds_length": 2658,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304363.9",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017635.5",
"protein_coding": true,
"protein_id": "ENSP00000305899.4",
"strand": false,
"transcript": "ENST00000304363.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 885,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": null,
"cds_end": null,
"cds_length": 2658,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615954.4",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484858.1",
"strand": false,
"transcript": "ENST00000615954.4",
"transcript_support_level": 1
},
{
"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": 2816,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441488.6",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "n.*382+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000411146.2",
"strand": false,
"transcript": "ENST00000441488.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 885,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5719,
"cdna_start": null,
"cds_end": null,
"cds_length": 2658,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369426.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356355.1",
"strand": false,
"transcript": "NM_001369426.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 814,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": null,
"cds_end": null,
"cds_length": 2445,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453170.6",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.961+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406377.2",
"strand": false,
"transcript": "ENST00000453170.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": null,
"cds_end": null,
"cds_length": 2142,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300907.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287836.1",
"strand": false,
"transcript": "NM_001300907.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6092,
"cdna_start": null,
"cds_end": null,
"cds_length": 2142,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369428.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356357.1",
"strand": false,
"transcript": "NM_001369428.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 713,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5570,
"cdna_start": null,
"cds_end": null,
"cds_length": 2142,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369429.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356358.1",
"strand": false,
"transcript": "NM_001369429.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 713,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5573,
"cdna_start": null,
"cds_end": null,
"cds_length": 2142,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369430.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356359.1",
"strand": false,
"transcript": "NM_001369430.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369431.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356360.1",
"strand": false,
"transcript": "NM_001369431.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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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": 12,
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"feature": "NM_001369432.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356361.1",
"strand": false,
"transcript": "NM_001369432.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "NM_001369433.1",
"gene_hgnc_id": 24283,
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356362.1",
"strand": false,
"transcript": "NM_001369433.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000700523.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.658+2688C>T",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515030.1",
"strand": false,
"transcript": "ENST00000700523.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "NM_001300908.2",
"gene_hgnc_id": 24283,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001287837.1",
"strand": false,
"transcript": "NM_001300908.2",
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},
{
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"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": "XM_005274035.5",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274092.2",
"strand": false,
"transcript": "XM_005274035.5",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427071.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.1174+2688C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "XM_047427071.1",
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},
{
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],
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"feature": "XM_005274036.5",
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},
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],
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"feature": "XM_006718581.2",
"gene_hgnc_id": 24283,
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"hgvs_c": "c.1105+2688C>T",
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"strand": false,
"transcript": "XM_006718581.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545092.4",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.961+2688C>T",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543394.1",
"strand": false,
"transcript": "XM_011545092.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047427072.1",
"gene_hgnc_id": 24283,
"gene_symbol": "KMT5B",
"hgvs_c": "c.892+2688C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283028.1",
"strand": false,
"transcript": "XM_047427072.1",
"transcript_support_level": null
},
{
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