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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: 17-32494773-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32494773&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO1D",
"hgnc_id": 7598,
"hgvs_c": "c.3007G>C",
"hgvs_p": "p.Val1003Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015194.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3818,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.45247820019721985,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "V",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 3259,
"cds_end": null,
"cds_length": 3021,
"cds_start": 3007,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_015194.3",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3007G>C",
"hgvs_p": "p.Val1003Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318217.10",
"protein_coding": true,
"protein_id": "NP_056009.1",
"strand": false,
"transcript": "NM_015194.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "V",
"aa_start": 1003,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5510,
"cdna_start": 3259,
"cds_end": null,
"cds_length": 3021,
"cds_start": 3007,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000318217.10",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3007G>C",
"hgvs_p": "p.Val1003Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015194.3",
"protein_coding": true,
"protein_id": "ENSP00000324527.5",
"strand": false,
"transcript": "ENST00000318217.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "V",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5514,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 3078,
"cds_start": 3064,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889850.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3064G>C",
"hgvs_p": "p.Val1022Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559909.1",
"strand": false,
"transcript": "ENST00000889850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "V",
"aa_start": 1019,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5524,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3069,
"cds_start": 3055,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889848.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3055G>C",
"hgvs_p": "p.Val1019Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559907.1",
"strand": false,
"transcript": "ENST00000889848.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "V",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 3316,
"cds_end": null,
"cds_length": 3042,
"cds_start": 3028,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889849.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3028G>C",
"hgvs_p": "p.Val1010Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559908.1",
"strand": false,
"transcript": "ENST00000889849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "V",
"aa_start": 1002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5428,
"cdna_start": 3256,
"cds_end": null,
"cds_length": 3018,
"cds_start": 3004,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889852.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.3004G>C",
"hgvs_p": "p.Val1002Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559911.1",
"strand": false,
"transcript": "ENST00000889852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 997,
"aa_ref": "V",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5396,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2980,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889854.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2980G>C",
"hgvs_p": "p.Val994Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559913.1",
"strand": false,
"transcript": "ENST00000889854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 981,
"aa_ref": "V",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": 3252,
"cds_end": null,
"cds_length": 2946,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000889847.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2932G>C",
"hgvs_p": "p.Val978Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559906.1",
"strand": false,
"transcript": "ENST00000889847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "V",
"aa_start": 972,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": 3164,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2914,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889853.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2914G>C",
"hgvs_p": "p.Val972Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559912.1",
"strand": false,
"transcript": "ENST00000889853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 968,
"aa_ref": "V",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5306,
"cdna_start": 3145,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2893,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000889856.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2893G>C",
"hgvs_p": "p.Val965Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559915.1",
"strand": false,
"transcript": "ENST00000889856.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 949,
"aa_ref": "V",
"aa_start": 946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5250,
"cdna_start": 3088,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2836,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000889855.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2836G>C",
"hgvs_p": "p.Val946Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559914.1",
"strand": false,
"transcript": "ENST00000889855.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 938,
"aa_ref": "V",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 3067,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000889851.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2803G>C",
"hgvs_p": "p.Val935Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559910.1",
"strand": false,
"transcript": "ENST00000889851.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 918,
"aa_ref": "V",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5608,
"cdna_start": 3357,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001411088.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398017.1",
"strand": false,
"transcript": "NM_001411088.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 918,
"aa_ref": "V",
"aa_start": 915,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5451,
"cdna_start": 3287,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2743,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000394649.8",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "c.2743G>C",
"hgvs_p": "p.Val915Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464741.1",
"strand": false,
"transcript": "ENST00000394649.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1008,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000577352.5",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "n.954G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000577352.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000577576.1",
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"hgvs_c": "n.261G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000577576.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs377477685",
"effect": "missense_variant",
"frequency_reference_population": 6.876747e-7,
"gene_hgnc_id": 7598,
"gene_symbol": "MYO1D",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.87675e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.401,
"pos": 32494773,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.227,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015194.3"
}
]
}