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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: 1-161198330-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161198330&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADAMTS4",
"hgnc_id": 220,
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001320336.3",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NDUFS2",
"hgnc_id": 7708,
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
"inheritance_mode": "Mitochondrial,Unknown,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001377298.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 2030,
"alphamissense_prediction": null,
"alphamissense_score": 0.0477,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0036356449127197266,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9777,
"cdna_start": 725,
"cds_end": null,
"cds_length": 2514,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_005099.6",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367996.6",
"protein_coding": true,
"protein_id": "NP_005090.3",
"strand": false,
"transcript": "NM_005099.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9777,
"cdna_start": 725,
"cds_end": null,
"cds_length": 2514,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000367996.6",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005099.6",
"protein_coding": true,
"protein_id": "ENSP00000356975.4",
"strand": false,
"transcript": "ENST00000367996.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 339,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1020,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000367995.3",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356974.3",
"strand": false,
"transcript": "ENST00000367995.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 846,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4170,
"cdna_start": 725,
"cds_end": null,
"cds_length": 2541,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001320336.3",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307265.1",
"strand": false,
"transcript": "NM_001320336.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 839,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 727,
"cds_end": null,
"cds_length": 2520,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000926274.1",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596333.1",
"strand": false,
"transcript": "ENST00000926274.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 554,
"cds_end": null,
"cds_length": 2514,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000926273.1",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596332.1",
"strand": false,
"transcript": "ENST00000926273.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 779,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 726,
"cds_end": null,
"cds_length": 2340,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960127.1",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630186.1",
"strand": false,
"transcript": "ENST00000960127.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 729,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": 724,
"cds_end": null,
"cds_length": 2190,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000960126.1",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630185.1",
"strand": false,
"transcript": "ENST00000960126.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 603,
"aa_ref": "S",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1812,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047434904.1",
"gene_hgnc_id": 220,
"gene_symbol": "ADAMTS4",
"hgvs_c": "c.298T>C",
"hgvs_p": "p.Ser100Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290860.1",
"strand": false,
"transcript": "XM_047434904.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": null,
"cds_end": null,
"cds_length": 1455,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677846.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504065.1",
"strand": true,
"transcript": "ENST00000677846.1",
"transcript_support_level": null
},
{
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"aa_length": 478,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": null,
"cds_end": null,
"cds_length": 1437,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000677579.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504162.1",
"strand": true,
"transcript": "ENST00000677579.1",
"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": 1904,
"cdna_start": null,
"cds_end": null,
"cds_length": 1392,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001377298.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364227.1",
"strand": true,
"transcript": "NM_001377298.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000676600.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-77+843A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503989.1",
"strand": true,
"transcript": "ENST00000676600.1",
"transcript_support_level": null
},
{
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"cds_start": null,
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],
"exon_count": 15,
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"feature": "ENST00000678507.1",
"gene_hgnc_id": 7708,
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"hgvs_c": "c.-240+843A>G",
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"protein_coding": true,
"protein_id": "ENSP00000504199.1",
"strand": true,
"transcript": "ENST00000678507.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000960014.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-18+843A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630073.1",
"strand": true,
"transcript": "ENST00000960014.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001377300.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364229.1",
"strand": true,
"transcript": "NM_001377300.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000677550.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
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"protein_id": "ENSP00000503353.1",
"strand": true,
"transcript": "ENST00000677550.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000678911.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503946.1",
"strand": true,
"transcript": "ENST00000678911.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000677231.1",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "c.-240+843A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503378.1",
"strand": true,
"transcript": "ENST00000677231.1",
"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": 681,
"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": "ENST00000479948.5",
"gene_hgnc_id": 7708,
"gene_symbol": "NDUFS2",
"hgvs_c": "n.53+1174A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000479948.5",
"transcript_support_level": 3
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001320336.3"
}
]
}