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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: 17-1483016-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1483016&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1483016,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000648651.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "NM_001080779.2",
"protein_id": "NP_001074248.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1063,
"cds_start": 391,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": "ENST00000648651.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "ENST00000648651.1",
"protein_id": "ENSP00000496954.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 1063,
"cds_start": 391,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": "NM_001080779.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "NM_001080950.2",
"protein_id": "NP_001074419.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1044,
"cds_start": 334,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Arg112Cys",
"transcript": "ENST00000648446.1",
"protein_id": "ENSP00000496799.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1044,
"cds_start": 334,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107Cys",
"transcript": "NM_001363855.1",
"protein_id": "NP_001350784.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 1039,
"cds_start": 319,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.319C>T",
"hgvs_p": "p.Arg107Cys",
"transcript": "ENST00000545534.6",
"protein_id": "ENSP00000437685.2",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 1039,
"cds_start": 319,
"cds_end": null,
"cds_length": 3120,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "NM_033375.5",
"protein_id": "NP_203693.3",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 4737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000361007.7",
"protein_id": "ENSP00000354283.2",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 4714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000570984.7",
"protein_id": "ENSP00000459271.3",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000575158.5",
"protein_id": "ENSP00000459174.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000646049.1",
"protein_id": "ENSP00000493973.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 4159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000573853.5",
"protein_id": "ENSP00000460831.1",
"transcript_support_level": 3,
"aa_start": 96,
"aa_end": null,
"aa_length": 169,
"cds_start": 286,
"cds_end": null,
"cds_length": 511,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.325C>T",
"hgvs_p": "p.Arg109Cys",
"transcript": "ENST00000570490.5",
"protein_id": "ENSP00000461682.1",
"transcript_support_level": 4,
"aa_start": 109,
"aa_end": null,
"aa_length": 167,
"cds_start": 325,
"cds_end": null,
"cds_length": 506,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "ENST00000575335.5",
"protein_id": "ENSP00000460415.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 136,
"cds_start": 286,
"cds_end": null,
"cds_length": 413,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_024450768.2",
"protein_id": "XP_024306536.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_024450769.2",
"protein_id": "XP_024306537.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047436133.1",
"protein_id": "XP_047292089.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047436134.1",
"protein_id": "XP_047292090.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047436136.1",
"protein_id": "XP_047292092.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"hgvs_c": "c.286C>T",
"hgvs_p": "p.Arg96Cys",
"transcript": "XM_047436137.1",
"protein_id": "XP_047292093.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 1028,
"cds_start": 286,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 4675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYO1C",
"gene_hgnc_id": 7597,
"dbsnp": "rs200048542",
"frequency_reference_population": 0.00037847625,
"hom_count_reference_population": 1,
"allele_count_reference_population": 610,
"gnomad_exomes_af": 0.000371996,
"gnomad_genomes_af": 0.000440697,
"gnomad_exomes_ac": 543,
"gnomad_genomes_ac": 67,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020069599151611328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.533,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.245,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.234,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000648651.1",
"gene_symbol": "MYO1C",
"hgnc_id": 7597,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys"
}
],
"clinvar_disease": "Anophthalmia-microphthalmia syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Anophthalmia-microphthalmia syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}