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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: 12-110914200-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110914200&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110914200,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000228841.15",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "NM_000432.4",
"protein_id": "NP_000423.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 783,
"mane_select": "ENST00000228841.15",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000228841.15",
"protein_id": "ENSP00000228841.8",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 783,
"mane_select": "NM_000432.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713800.1",
"protein_id": "ENSP00000519106.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713803.1",
"protein_id": "ENSP00000519109.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713804.1",
"protein_id": "ENSP00000519110.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713805.1",
"protein_id": "ENSP00000519111.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713806.1",
"protein_id": "ENSP00000519112.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713826.1",
"protein_id": "ENSP00000519130.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713828.1",
"protein_id": "ENSP00000519132.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713829.1",
"protein_id": "ENSP00000519133.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713830.1",
"protein_id": "ENSP00000519134.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala",
"transcript": "ENST00000713831.1",
"protein_id": "ENSP00000519135.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 166,
"cds_start": 260,
"cds_end": null,
"cds_length": 501,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Gly73Ala",
"transcript": "NM_001406745.1",
"protein_id": "NP_001393674.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 152,
"cds_start": 218,
"cds_end": null,
"cds_length": 459,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Gly73Ala",
"transcript": "ENST00000548438.1",
"protein_id": "ENSP00000447154.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 152,
"cds_start": 218,
"cds_end": null,
"cds_length": 459,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Gly68Ala",
"transcript": "NM_001406916.1",
"protein_id": "NP_001393845.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 147,
"cds_start": 203,
"cds_end": null,
"cds_length": 444,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.203G>C",
"hgvs_p": "p.Gly68Ala",
"transcript": "ENST00000663220.1",
"protein_id": "ENSP00000499568.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 147,
"cds_start": 203,
"cds_end": null,
"cds_length": 444,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Gly52Ala",
"transcript": "ENST00000713801.1",
"protein_id": "ENSP00000519107.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 131,
"cds_start": 155,
"cds_end": null,
"cds_length": 396,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.155G>C",
"hgvs_p": "p.Gly52Ala",
"transcript": "ENST00000713827.1",
"protein_id": "ENSP00000519131.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 131,
"cds_start": 155,
"cds_end": null,
"cds_length": 396,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "n.91G>C",
"hgvs_p": null,
"transcript": "ENST00000549029.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"dbsnp": "rs397516399",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9913098216056824,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.558,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8034,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.85,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000228841.15",
"gene_symbol": "MYL2",
"hgnc_id": 7583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Gly87Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,Hypertrophic cardiomyopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:2",
"phenotype_combined": "Hypertrophic cardiomyopathy|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}