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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: 2-170383738-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=170383738&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 170383738,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138995.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "NM_138995.5",
"protein_id": "NP_620482.3",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1214,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": "ENST00000408978.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "ENST00000408978.9",
"protein_id": "ENSP00000386213.4",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1214,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": "NM_138995.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "ENST00000409044.7",
"protein_id": "ENSP00000386497.3",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 1314,
"cds_start": 1214,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1357G>A",
"hgvs_p": null,
"transcript": "ENST00000409940.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 4156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "NM_001083615.4",
"protein_id": "NP_001077084.2",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1314,
"cds_start": 1214,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"transcript": "ENST00000484338.6",
"protein_id": "ENSP00000446237.1",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1241,
"cds_end": null,
"cds_length": 3316,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"transcript": "XM_011510654.4",
"protein_id": "XP_011508956.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 1386,
"cds_start": 1241,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"transcript": "XM_006712299.5",
"protein_id": "XP_006712362.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 1350,
"cds_start": 1241,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.1241G>A",
"hgvs_p": "p.Arg414His",
"transcript": "XM_011510655.4",
"protein_id": "XP_011508957.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 1323,
"cds_start": 1241,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.548G>A",
"hgvs_p": "p.Arg183His",
"transcript": "XM_011510656.4",
"protein_id": "XP_011508958.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1155,
"cds_start": 548,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "XM_011510657.4",
"protein_id": "XP_011508959.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1050,
"cds_start": 233,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "XM_024452713.2",
"protein_id": "XP_024308481.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 1050,
"cds_start": 233,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1214G>A",
"hgvs_p": null,
"transcript": "ENST00000317935.10",
"protein_id": "ENSP00000314650.6",
"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": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1357G>A",
"hgvs_p": null,
"transcript": "ENST00000438642.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1082G>A",
"hgvs_p": null,
"transcript": "ENST00000602629.1",
"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": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1355G>A",
"hgvs_p": null,
"transcript": "NR_045682.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1355G>A",
"hgvs_p": null,
"transcript": "NR_045683.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.1355G>A",
"hgvs_p": null,
"transcript": "NR_045684.2",
"protein_id": null,
"transcript_support_level": null,
"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": 6163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MYO3B-AS1",
"gene_hgnc_id": 40713,
"hgvs_c": "n.196+89C>T",
"hgvs_p": null,
"transcript": "ENST00000625968.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"dbsnp": "rs201471096",
"frequency_reference_population": 0.000110323286,
"hom_count_reference_population": 0,
"allele_count_reference_population": 178,
"gnomad_exomes_af": 0.000106061,
"gnomad_genomes_af": 0.000151306,
"gnomad_exomes_ac": 155,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8992365598678589,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.765,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.14,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138995.5",
"gene_symbol": "MYO3B",
"hgnc_id": 15576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625968.2",
"gene_symbol": "MYO3B-AS1",
"hgnc_id": 40713,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.196+89C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}