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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: 1-214318943-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=214318943&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 214318943,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020197.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "NM_020197.3",
"protein_id": "NP_064582.2",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 433,
"cds_start": 494,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366957.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020197.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000366957.10",
"protein_id": "ENSP00000355924.5",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 433,
"cds_start": 494,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020197.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366957.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "ENST00000460580.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460580.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "n.624G>C",
"hgvs_p": null,
"transcript": "ENST00000471645.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000471645.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.569G>C",
"hgvs_p": "p.Gly190Ala",
"transcript": "ENST00000950476.1",
"protein_id": "ENSP00000620535.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 458,
"cds_start": 569,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950476.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.566G>C",
"hgvs_p": "p.Gly189Ala",
"transcript": "ENST00000950475.1",
"protein_id": "ENSP00000620534.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 457,
"cds_start": 566,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950475.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.566G>C",
"hgvs_p": "p.Gly189Ala",
"transcript": "ENST00000950479.1",
"protein_id": "ENSP00000620538.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 457,
"cds_start": 566,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950479.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.485G>C",
"hgvs_p": "p.Gly162Ala",
"transcript": "ENST00000950481.1",
"protein_id": "ENSP00000620540.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 430,
"cds_start": 485,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950481.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000950478.1",
"protein_id": "ENSP00000620537.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 426,
"cds_start": 494,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950478.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000927350.1",
"protein_id": "ENSP00000597409.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 392,
"cds_start": 494,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927350.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000950473.1",
"protein_id": "ENSP00000620532.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 333,
"cds_start": 494,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950473.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "ENST00000873620.1",
"protein_id": "ENSP00000543679.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 298,
"cds_start": 494,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873620.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.242G>C",
"hgvs_p": "p.Gly81Ala",
"transcript": "XM_047425700.1",
"protein_id": "XP_047281656.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 349,
"cds_start": 242,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425700.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala",
"transcript": "XM_047425702.1",
"protein_id": "XP_047281658.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 272,
"cds_start": 494,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.348+4071G>C",
"hgvs_p": null,
"transcript": "ENST00000950474.1",
"protein_id": "ENSP00000620533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.238-5698G>C",
"hgvs_p": null,
"transcript": "ENST00000950480.1",
"protein_id": "ENSP00000620539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950480.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "c.174-8679G>C",
"hgvs_p": null,
"transcript": "ENST00000950477.1",
"protein_id": "ENSP00000620536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": null,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"hgvs_c": "n.647G>C",
"hgvs_p": null,
"transcript": "ENST00000491455.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000491455.5"
}
],
"gene_symbol": "SMYD2",
"gene_hgnc_id": 20982,
"dbsnp": "rs1134647",
"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": 0.08395132422447205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.075,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.948,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020197.3",
"gene_symbol": "SMYD2",
"hgnc_id": 20982,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.494G>C",
"hgvs_p": "p.Gly165Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}