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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: 22-26027121-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=26027121&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 26027121,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000407587.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7147C>T",
"hgvs_p": "p.Arg2383Trp",
"transcript": "NM_032608.7",
"protein_id": "NP_115997.5",
"transcript_support_level": null,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7147,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 7362,
"cdna_end": null,
"cdna_length": 8534,
"mane_select": "ENST00000335473.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7147C>T",
"hgvs_p": "p.Arg2383Trp",
"transcript": "ENST00000335473.12",
"protein_id": "ENSP00000334563.8",
"transcript_support_level": 1,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7147,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 7362,
"cdna_end": null,
"cdna_length": 8534,
"mane_select": "NM_032608.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7150C>T",
"hgvs_p": "p.Arg2384Trp",
"transcript": "ENST00000407587.6",
"protein_id": "ENSP00000386096.2",
"transcript_support_level": 1,
"aa_start": 2384,
"aa_end": null,
"aa_length": 2568,
"cds_start": 7150,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 7319,
"cdna_end": null,
"cdna_length": 8090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7147C>T",
"hgvs_p": "p.Arg2383Trp",
"transcript": "ENST00000536101.5",
"protein_id": "ENSP00000441229.1",
"transcript_support_level": 1,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7147,
"cds_end": null,
"cds_length": 7704,
"cdna_start": 7406,
"cdna_end": null,
"cdna_length": 8051,
"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": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "n.5718C>T",
"hgvs_p": null,
"transcript": "ENST00000418374.6",
"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": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "n.*4605C>T",
"hgvs_p": null,
"transcript": "ENST00000539302.5",
"protein_id": "ENSP00000437587.1",
"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": 7774,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "n.73C>T",
"hgvs_p": null,
"transcript": "ENST00000540454.1",
"protein_id": "ENSP00000441301.1",
"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": 1099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "n.*4605C>T",
"hgvs_p": null,
"transcript": "ENST00000539302.5",
"protein_id": "ENSP00000437587.1",
"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": 7774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7150C>T",
"hgvs_p": "p.Arg2384Trp",
"transcript": "NM_001318245.2",
"protein_id": "NP_001305174.1",
"transcript_support_level": null,
"aa_start": 2384,
"aa_end": null,
"aa_length": 2568,
"cds_start": 7150,
"cds_end": null,
"cds_length": 7707,
"cdna_start": 7365,
"cdna_end": null,
"cdna_length": 8537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.994C>T",
"hgvs_p": "p.Arg332Trp",
"transcript": "ENST00000543971.1",
"protein_id": "ENSP00000444262.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 516,
"cds_start": 994,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7276C>T",
"hgvs_p": "p.Arg2426Trp",
"transcript": "XM_011530458.3",
"protein_id": "XP_011528760.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2610,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 7491,
"cdna_end": null,
"cdna_length": 8663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7276C>T",
"hgvs_p": "p.Arg2426Trp",
"transcript": "XM_011530459.3",
"protein_id": "XP_011528761.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2610,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 7516,
"cdna_end": null,
"cdna_length": 8688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7276C>T",
"hgvs_p": "p.Arg2426Trp",
"transcript": "XM_011530460.3",
"protein_id": "XP_011528762.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2610,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 7389,
"cdna_end": null,
"cdna_length": 8561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7276C>T",
"hgvs_p": "p.Arg2426Trp",
"transcript": "XM_011530461.3",
"protein_id": "XP_011528763.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2610,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 7491,
"cdna_end": null,
"cdna_length": 15286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7276C>T",
"hgvs_p": "p.Arg2426Trp",
"transcript": "XM_017029013.2",
"protein_id": "XP_016884502.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2610,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7833,
"cdna_start": 7591,
"cdna_end": null,
"cdna_length": 8763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7273C>T",
"hgvs_p": "p.Arg2425Trp",
"transcript": "XM_011530464.3",
"protein_id": "XP_011528766.1",
"transcript_support_level": null,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2609,
"cds_start": 7273,
"cds_end": null,
"cds_length": 7830,
"cdna_start": 7488,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7273C>T",
"hgvs_p": "p.Arg2425Trp",
"transcript": "XM_017029014.2",
"protein_id": "XP_016884503.1",
"transcript_support_level": null,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2609,
"cds_start": 7273,
"cds_end": null,
"cds_length": 7830,
"cdna_start": 7488,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7270C>T",
"hgvs_p": "p.Arg2424Trp",
"transcript": "XM_047441551.1",
"protein_id": "XP_047297507.1",
"transcript_support_level": null,
"aa_start": 2424,
"aa_end": null,
"aa_length": 2608,
"cds_start": 7270,
"cds_end": null,
"cds_length": 7827,
"cdna_start": 7485,
"cdna_end": null,
"cdna_length": 8657,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.7144C>T",
"hgvs_p": "p.Arg2382Trp",
"transcript": "XM_017029015.2",
"protein_id": "XP_016884504.1",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2566,
"cds_start": 7144,
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"cds_length": 7701,
"cdna_start": 7359,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.6793C>T",
"hgvs_p": "p.Arg2265Trp",
"transcript": "XM_011530465.3",
"protein_id": "XP_011528767.1",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2449,
"cds_start": 6793,
"cds_end": null,
"cds_length": 7350,
"cdna_start": 7303,
"cdna_end": null,
"cdna_length": 8475,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"hgvs_c": "c.4612C>T",
"hgvs_p": "p.Arg1538Trp",
"transcript": "XM_017029016.2",
"protein_id": "XP_016884505.1",
"transcript_support_level": null,
"aa_start": 1538,
"aa_end": null,
"aa_length": 1722,
"cds_start": 4612,
"cds_end": null,
"cds_length": 5169,
"cdna_start": 4669,
"cdna_end": null,
"cdna_length": 5841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO18B",
"gene_hgnc_id": 18150,
"dbsnp": "rs192639023",
"frequency_reference_population": 0.004512425,
"hom_count_reference_population": 26,
"allele_count_reference_population": 7283,
"gnomad_exomes_af": 0.004635,
"gnomad_genomes_af": 0.00333587,
"gnomad_exomes_ac": 6775,
"gnomad_genomes_ac": 508,
"gnomad_exomes_homalt": 24,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008432716131210327,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.625,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000407587.6",
"gene_symbol": "MYO18B",
"hgnc_id": 18150,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7150C>T",
"hgvs_p": "p.Arg2384Trp"
}
],
"clinvar_disease": "MYO18B-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|MYO18B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}