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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: 12-110915787-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110915787&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYL2",
"hgnc_id": 7583,
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_000432.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PP2,PP3_Strong",
"acmg_score": 7,
"allele_count_reference_population": 10,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 12, infantile-onset, myofibrillar, with cardiomyopathy,Cardiomyopathy,Cardiovascular phenotype,Hypertrophic cardiomyopathy,Hypertrophic cardiomyopathy 10,Myopathy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9819380044937134,
"computational_source_selected": "CardioboostCm",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": 147,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000432.4",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228841.15",
"protein_coding": true,
"protein_id": "NP_000423.2",
"strand": false,
"transcript": "NM_000432.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 783,
"cdna_start": 147,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000228841.15",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000432.4",
"protein_coding": true,
"protein_id": "ENSP00000228841.8",
"strand": false,
"transcript": "ENST00000228841.15",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 828,
"cdna_start": 166,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713800.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519106.1",
"strand": false,
"transcript": "ENST00000713800.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1834,
"cdna_start": 349,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713803.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519109.1",
"strand": false,
"transcript": "ENST00000713803.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": 445,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713804.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519110.1",
"strand": false,
"transcript": "ENST00000713804.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 986,
"cdna_start": 339,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713805.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519111.1",
"strand": false,
"transcript": "ENST00000713805.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1036,
"cdna_start": 401,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000713806.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519112.1",
"strand": false,
"transcript": "ENST00000713806.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 974,
"cdna_start": 338,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713826.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519130.1",
"strand": false,
"transcript": "ENST00000713826.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 833,
"cdna_start": 171,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713828.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519132.1",
"strand": false,
"transcript": "ENST00000713828.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 187,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713829.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519133.1",
"strand": false,
"transcript": "ENST00000713829.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 328,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713830.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519134.1",
"strand": false,
"transcript": "ENST00000713830.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 166,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 928,
"cdna_start": 292,
"cds_end": null,
"cds_length": 501,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000713831.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519135.1",
"strand": false,
"transcript": "ENST00000713831.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 165,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1646,
"cdna_start": 186,
"cds_end": null,
"cds_length": 498,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966752.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636811.1",
"strand": false,
"transcript": "ENST00000966752.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1208,
"cdna_start": 167,
"cds_end": null,
"cds_length": 495,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966753.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636812.1",
"strand": false,
"transcript": "ENST00000966753.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 163,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 147,
"cds_end": null,
"cds_length": 492,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880460.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550519.1",
"strand": false,
"transcript": "ENST00000880460.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 158,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 147,
"cds_end": null,
"cds_length": 477,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966754.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636813.1",
"strand": false,
"transcript": "ENST00000966754.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 147,
"aa_ref": "F",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": 155,
"cds_end": null,
"cds_length": 444,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001406916.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Phe14Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393845.1",
"strand": false,
"transcript": "NM_001406916.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 147,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": 149,
"cds_end": null,
"cds_length": 444,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000663220.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Phe14Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499568.1",
"strand": false,
"transcript": "ENST00000663220.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 147,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 755,
"cdna_start": 148,
"cds_end": null,
"cds_length": 444,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880458.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550517.1",
"strand": false,
"transcript": "ENST00000880458.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 131,
"aa_ref": "F",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": 147,
"cds_end": null,
"cds_length": 396,
"cds_start": 97,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880462.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.97T>C",
"hgvs_p": "p.Phe33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550521.1",
"strand": false,
"transcript": "ENST00000880462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000713801.1",
"gene_hgnc_id": 7583,
"gene_symbol": "MYL2",
"hgvs_c": "c.-9T>C",
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}