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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: 18-3129353-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3129353&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3129353,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_003803.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Leu891Leu",
"transcript": "NM_003803.4",
"protein_id": "NP_003794.3",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1685,
"cds_start": 2673,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356443.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003803.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000356443.9",
"protein_id": "ENSP00000348821.4",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1685,
"cds_start": 2673,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003803.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356443.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2506+2022G>C",
"hgvs_p": null,
"transcript": "ENST00000261606.11",
"protein_id": "ENSP00000261606.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1589,
"cds_start": null,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261606.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Leu891Leu",
"transcript": "ENST00000941943.1",
"protein_id": "ENSP00000612002.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1673,
"cds_start": 2673,
"cds_end": null,
"cds_length": 5022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941943.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2796G>C",
"hgvs_p": "p.Leu932Leu",
"transcript": "XM_047437909.1",
"protein_id": "XP_047293865.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1726,
"cds_start": 2796,
"cds_end": null,
"cds_length": 5181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437909.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2796G>C",
"hgvs_p": "p.Leu932Leu",
"transcript": "XM_017026062.2",
"protein_id": "XP_016881551.2",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1714,
"cds_start": 2796,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026062.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Leu891Leu",
"transcript": "XM_047437910.1",
"protein_id": "XP_047293866.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1685,
"cds_start": 2673,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2605+2022G>C",
"hgvs_p": null,
"transcript": "ENST00000941942.1",
"protein_id": "ENSP00000612001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1622,
"cds_start": null,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2506+2022G>C",
"hgvs_p": null,
"transcript": "NM_019856.2",
"protein_id": "NP_062830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1589,
"cds_start": null,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019856.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2506+2022G>C",
"hgvs_p": null,
"transcript": "ENST00000941945.1",
"protein_id": "ENSP00000612004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1589,
"cds_start": null,
"cds_end": null,
"cds_length": 4770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.1900+19792G>C",
"hgvs_p": null,
"transcript": "ENST00000941944.1",
"protein_id": "ENSP00000612003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1179,
"cds_start": null,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "c.2629+2022G>C",
"hgvs_p": null,
"transcript": "XM_047437911.1",
"protein_id": "XP_047293867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1630,
"cds_start": null,
"cds_end": null,
"cds_length": 4893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437911.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "n.229G>C",
"hgvs_p": null,
"transcript": "ENST00000582016.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000582016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"hgvs_c": "n.2976G>C",
"hgvs_p": null,
"transcript": "XR_935071.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_935071.3"
}
],
"gene_symbol": "MYOM1",
"gene_hgnc_id": 7613,
"dbsnp": "rs115240600",
"frequency_reference_population": 0.0024301503,
"hom_count_reference_population": 73,
"allele_count_reference_population": 3922,
"gnomad_exomes_af": 0.00131559,
"gnomad_genomes_af": 0.0131352,
"gnomad_exomes_ac": 1923,
"gnomad_genomes_ac": 1999,
"gnomad_exomes_homalt": 37,
"gnomad_genomes_homalt": 36,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5400000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.751,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003803.4",
"gene_symbol": "MYOM1",
"hgnc_id": 7613,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2673G>C",
"hgvs_p": "p.Leu891Leu"
}
],
"clinvar_disease": "Cardiovascular phenotype,Hypertrophic cardiomyopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|Cardiovascular phenotype|Hypertrophic cardiomyopathy|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}