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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: 6-138424548-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424548&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NHSL1",
"hgnc_id": 21021,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Ser1456Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_020464.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.137,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0958101749420166,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "S",
"aa_start": 1452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4558,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4354,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001144060.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4354T>C",
"hgvs_p": "p.Ser1452Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343505.10",
"protein_coding": true,
"protein_id": "NP_001137532.1",
"strand": false,
"transcript": "NM_001144060.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "S",
"aa_start": 1452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7063,
"cdna_start": 4558,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4354,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000343505.10",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4354T>C",
"hgvs_p": "p.Ser1452Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144060.2",
"protein_coding": true,
"protein_id": "ENSP00000344672.5",
"strand": false,
"transcript": "ENST00000343505.10",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "S",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7579,
"cdna_start": 5074,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4585,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000491526.7",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4585T>C",
"hgvs_p": "p.Ser1529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433523.2",
"strand": false,
"transcript": "ENST00000491526.7",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7529,
"cdna_start": 5024,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4366,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020464.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Ser1456Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065197.1",
"strand": false,
"transcript": "NM_020464.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7500,
"cdna_start": 4995,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4366,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000427025.6",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Ser1456Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394546.2",
"strand": false,
"transcript": "ENST00000427025.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1701,
"aa_ref": "S",
"aa_start": 1547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7592,
"cdna_start": 5087,
"cds_end": null,
"cds_length": 5106,
"cds_start": 4639,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535976.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4639T>C",
"hgvs_p": "p.Ser1547Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534278.2",
"strand": false,
"transcript": "XM_011535976.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1683,
"aa_ref": "S",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7538,
"cdna_start": 5033,
"cds_end": null,
"cds_length": 5052,
"cds_start": 4585,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419109.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4585T>C",
"hgvs_p": "p.Ser1529Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275065.1",
"strand": false,
"transcript": "XM_047419109.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7391,
"cdna_start": 4886,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4552,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535966.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4552T>C",
"hgvs_p": "p.Ser1518Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534268.1",
"strand": false,
"transcript": "XM_011535966.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 4830,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4552,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011535967.4",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4552T>C",
"hgvs_p": "p.Ser1518Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534269.1",
"strand": false,
"transcript": "XM_011535967.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1672,
"aa_ref": "S",
"aa_start": 1518,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 4796,
"cds_end": null,
"cds_length": 5019,
"cds_start": 4552,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017011086.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4552T>C",
"hgvs_p": "p.Ser1518Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866575.1",
"strand": false,
"transcript": "XM_017011086.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1657,
"aa_ref": "S",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7460,
"cdna_start": 4955,
"cds_end": null,
"cds_length": 4974,
"cds_start": 4507,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419110.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4507T>C",
"hgvs_p": "p.Ser1503Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275066.1",
"strand": false,
"transcript": "XM_047419110.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1654,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7337,
"cdna_start": 4832,
"cds_end": null,
"cds_length": 4965,
"cds_start": 4498,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047419111.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4498T>C",
"hgvs_p": "p.Ser1500Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275067.1",
"strand": false,
"transcript": "XM_047419111.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7281,
"cdna_start": 4776,
"cds_end": null,
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"cds_start": 4498,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
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"feature": "XM_047419112.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4498T>C",
"hgvs_p": "p.Ser1500Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275068.1",
"strand": false,
"transcript": "XM_047419112.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1639,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7406,
"cdna_start": 4901,
"cds_end": null,
"cds_length": 4920,
"cds_start": 4453,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419113.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4453T>C",
"hgvs_p": "p.Ser1485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275069.1",
"strand": false,
"transcript": "XM_047419113.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1637,
"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 5444,
"cds_end": null,
"cds_length": 4914,
"cds_start": 4447,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017011087.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4447T>C",
"hgvs_p": "p.Ser1483Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866576.1",
"strand": false,
"transcript": "XM_017011087.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 4567,
"cds_end": null,
"cds_length": 4878,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535969.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4411T>C",
"hgvs_p": "p.Ser1471Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534271.1",
"strand": false,
"transcript": "XM_011535969.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 4612,
"cds_end": null,
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"cds_start": 4408,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535970.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4408T>C",
"hgvs_p": "p.Ser1470Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534272.1",
"strand": false,
"transcript": "XM_011535970.3",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 11545,
"cds_end": null,
"cds_length": 4869,
"cds_start": 4402,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017011088.2",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4402T>C",
"hgvs_p": "p.Ser1468Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016866577.1",
"strand": false,
"transcript": "XM_017011088.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7895,
"cdna_start": 5390,
"cds_end": null,
"cds_length": 4860,
"cds_start": 4393,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047419114.1",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4393T>C",
"hgvs_p": "p.Ser1465Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275070.1",
"strand": false,
"transcript": "XM_047419114.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1618,
"aa_ref": "S",
"aa_start": 1464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13293,
"cdna_start": 10788,
"cds_end": null,
"cds_length": 4857,
"cds_start": 4390,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011535971.3",
"gene_hgnc_id": 21021,
"gene_symbol": "NHSL1",
"hgvs_c": "c.4390T>C",
"hgvs_p": "p.Ser1464Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534273.1",
"strand": false,
"transcript": "XM_011535971.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1610,
"aa_ref": "S",
"aa_start": 1456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6968,
"cdna_start": 4463,
"cds_end": null,
"cds_length": 4833,
"cds_start": 4366,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011535972.3",
"gene_hgnc_id": 21021,
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