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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: 12-110913277-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110913277&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110913277,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000228841.15",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "NM_000432.4",
"protein_id": "NP_000423.2",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 783,
"mane_select": "ENST00000228841.15",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000228841.15",
"protein_id": "ENSP00000228841.8",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 783,
"mane_select": "NM_000432.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713800.1",
"protein_id": "ENSP00000519106.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713803.1",
"protein_id": "ENSP00000519109.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713804.1",
"protein_id": "ENSP00000519110.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713805.1",
"protein_id": "ENSP00000519111.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713806.1",
"protein_id": "ENSP00000519112.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713826.1",
"protein_id": "ENSP00000519130.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713828.1",
"protein_id": "ENSP00000519132.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713829.1",
"protein_id": "ENSP00000519133.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713830.1",
"protein_id": "ENSP00000519134.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser",
"transcript": "ENST00000713831.1",
"protein_id": "ENSP00000519135.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 166,
"cds_start": 322,
"cds_end": null,
"cds_length": 501,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "NM_001406745.1",
"protein_id": "NP_001393674.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 152,
"cds_start": 280,
"cds_end": null,
"cds_length": 459,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.280C>T",
"hgvs_p": "p.Pro94Ser",
"transcript": "ENST00000548438.1",
"protein_id": "ENSP00000447154.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 152,
"cds_start": 280,
"cds_end": null,
"cds_length": 459,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Pro89Ser",
"transcript": "NM_001406916.1",
"protein_id": "NP_001393845.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 147,
"cds_start": 265,
"cds_end": null,
"cds_length": 444,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Pro89Ser",
"transcript": "ENST00000663220.1",
"protein_id": "ENSP00000499568.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 147,
"cds_start": 265,
"cds_end": null,
"cds_length": 444,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Pro73Ser",
"transcript": "ENST00000713801.1",
"protein_id": "ENSP00000519107.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 131,
"cds_start": 217,
"cds_end": null,
"cds_length": 396,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Pro73Ser",
"transcript": "ENST00000713827.1",
"protein_id": "ENSP00000519131.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 131,
"cds_start": 217,
"cds_end": null,
"cds_length": 396,
"cdna_start": 402,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL2",
"gene_hgnc_id": 7583,
"hgvs_c": "n.153C>T",
"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": "rs1555257773",
"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": 0.41571229696273804,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.629,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2149,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000228841.15",
"gene_symbol": "MYL2",
"hgnc_id": 7583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Pro108Ser"
}
],
"clinvar_disease": "Hypertrophic cardiomyopathy 10",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hypertrophic cardiomyopathy 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}