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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: 2-170214451-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=170214451&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 170214451,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138995.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val",
"transcript": "NM_138995.5",
"protein_id": "NP_620482.3",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1341,
"cds_start": 394,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": "ENST00000408978.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val",
"transcript": "ENST00000408978.9",
"protein_id": "ENSP00000386213.4",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1341,
"cds_start": 394,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6213,
"mane_select": "NM_138995.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val",
"transcript": "ENST00000409044.7",
"protein_id": "ENSP00000386497.3",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 1314,
"cds_start": 394,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 5448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.391A>G",
"hgvs_p": "p.Met131Val",
"transcript": "ENST00000442690.1",
"protein_id": "ENSP00000401160.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 359,
"cds_start": 391,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 1720,
"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": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.537A>G",
"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": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val",
"transcript": "NM_001083615.4",
"protein_id": "NP_001077084.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 1314,
"cds_start": 394,
"cds_end": null,
"cds_length": 3945,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Met141Val",
"transcript": "ENST00000484338.6",
"protein_id": "ENSP00000446237.1",
"transcript_support_level": 5,
"aa_start": 141,
"aa_end": null,
"aa_length": 1104,
"cds_start": 421,
"cds_end": null,
"cds_length": 3316,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Met141Val",
"transcript": "XM_011510654.4",
"protein_id": "XP_011508956.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 1386,
"cds_start": 421,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 6230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Met141Val",
"transcript": "XM_006712299.5",
"protein_id": "XP_006712362.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 1350,
"cds_start": 421,
"cds_end": null,
"cds_length": 4053,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "c.421A>G",
"hgvs_p": "p.Met141Val",
"transcript": "XM_011510655.4",
"protein_id": "XP_011508957.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 1323,
"cds_start": 421,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 6041,
"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": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.394A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.537A>G",
"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": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.348A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.535A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.535A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"hgvs_c": "n.535A>G",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000308085",
"gene_hgnc_id": null,
"hgvs_c": "n.75+7315T>C",
"hgvs_p": null,
"transcript": "ENST00000830972.1",
"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": 322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO3B",
"gene_hgnc_id": 15576,
"dbsnp": "rs754301736",
"frequency_reference_population": 0.00001424978,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000116291,
"gnomad_genomes_af": 0.0000394182,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030327528715133667,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.0577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.612,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_138995.5",
"gene_symbol": "MYO3B",
"hgnc_id": 15576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.394A>G",
"hgvs_p": "p.Met132Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000830972.1",
"gene_symbol": "ENSG00000308085",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.75+7315T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}