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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: 1-11792355-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11792355&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTHFR",
"hgnc_id": 7436,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001330358.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 882,
"alphamissense_prediction": null,
"alphamissense_score": 0.1056,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " folate-sensitive,Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Intellectual disability,MTHFR-related disorder,Neural tube defects,Schizophrenia,Thrombophilia due to thrombin defect,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009440869092941284,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7018,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_005957.5",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376590.9",
"protein_coding": true,
"protein_id": "NP_005948.3",
"strand": false,
"transcript": "NM_005957.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7018,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376590.9",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005957.5",
"protein_coding": true,
"protein_id": "ENSP00000365775.3",
"strand": false,
"transcript": "ENST00000376590.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000423400.7",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398908.3",
"strand": false,
"transcript": "ENST00000423400.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8378,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376592.6",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365777.1",
"strand": false,
"transcript": "ENST00000376592.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7074,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001330358.2",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317287.1",
"strand": false,
"transcript": "NM_001330358.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7044,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000376583.7",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365767.3",
"strand": false,
"transcript": "ENST00000376583.7",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 697,
"aa_ref": "R",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8094,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000376585.6",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365770.1",
"strand": false,
"transcript": "ENST00000376585.6",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 696,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7071,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001410750.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397679.1",
"strand": false,
"transcript": "NM_001410750.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 663,
"aa_ref": "R",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1576,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970342.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1576C>T",
"hgvs_p": "p.Arg526Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640401.1",
"strand": false,
"transcript": "ENST00000970342.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911085.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581144.1",
"strand": false,
"transcript": "ENST00000911085.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 642,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000641407.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493098.1",
"strand": false,
"transcript": "ENST00000641407.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 606,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911084.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581143.1",
"strand": false,
"transcript": "ENST00000911084.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911086.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581145.1",
"strand": false,
"transcript": "ENST00000911086.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 606,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911087.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581146.1",
"strand": false,
"transcript": "ENST00000911087.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 606,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970341.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640400.1",
"strand": false,
"transcript": "ENST00000970341.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970343.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1372C>T",
"hgvs_p": "p.Arg458Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640402.1",
"strand": false,
"transcript": "ENST00000970343.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 411,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1569,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1236,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000641820.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492937.1",
"strand": false,
"transcript": "ENST00000641820.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6892,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011541496.4",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Arg560Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539798.1",
"strand": false,
"transcript": "XM_011541496.4",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6889,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047421174.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277130.1",
"strand": false,
"transcript": "XM_047421174.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7015,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005263462.5",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Arg519Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263519.1",
"strand": false,
"transcript": "XM_005263462.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
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}