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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32494773&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 32494773,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015194.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Val1003Met",
"transcript": "NM_015194.3",
"protein_id": "NP_056009.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1006,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318217.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015194.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Val1003Met",
"transcript": "ENST00000318217.10",
"protein_id": "ENSP00000324527.5",
"transcript_support_level": 1,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1006,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015194.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318217.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3064G>A",
"hgvs_p": "p.Val1022Met",
"transcript": "ENST00000889850.1",
"protein_id": "ENSP00000559909.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889850.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3055G>A",
"hgvs_p": "p.Val1019Met",
"transcript": "ENST00000889848.1",
"protein_id": "ENSP00000559907.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1022,
"cds_start": 3055,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889848.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3028G>A",
"hgvs_p": "p.Val1010Met",
"transcript": "ENST00000889849.1",
"protein_id": "ENSP00000559908.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1013,
"cds_start": 3028,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889849.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Val1002Met",
"transcript": "ENST00000889852.1",
"protein_id": "ENSP00000559911.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1005,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889852.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2980G>A",
"hgvs_p": "p.Val994Met",
"transcript": "ENST00000889854.1",
"protein_id": "ENSP00000559913.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 997,
"cds_start": 2980,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889854.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2932G>A",
"hgvs_p": "p.Val978Met",
"transcript": "ENST00000889847.1",
"protein_id": "ENSP00000559906.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 981,
"cds_start": 2932,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889847.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2914G>A",
"hgvs_p": "p.Val972Met",
"transcript": "ENST00000889853.1",
"protein_id": "ENSP00000559912.1",
"transcript_support_level": null,
"aa_start": 972,
"aa_end": null,
"aa_length": 975,
"cds_start": 2914,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889853.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2893G>A",
"hgvs_p": "p.Val965Met",
"transcript": "ENST00000889856.1",
"protein_id": "ENSP00000559915.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 968,
"cds_start": 2893,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889856.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2836G>A",
"hgvs_p": "p.Val946Met",
"transcript": "ENST00000889855.1",
"protein_id": "ENSP00000559914.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 949,
"cds_start": 2836,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889855.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Val935Met",
"transcript": "ENST00000889851.1",
"protein_id": "ENSP00000559910.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 938,
"cds_start": 2803,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889851.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2743G>A",
"hgvs_p": "p.Val915Met",
"transcript": "NM_001411088.1",
"protein_id": "NP_001398017.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 918,
"cds_start": 2743,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411088.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "c.2743G>A",
"hgvs_p": "p.Val915Met",
"transcript": "ENST00000394649.8",
"protein_id": "ENSP00000464741.1",
"transcript_support_level": 5,
"aa_start": 915,
"aa_end": null,
"aa_length": 918,
"cds_start": 2743,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394649.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "n.954G>A",
"hgvs_p": null,
"transcript": "ENST00000577352.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000577352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"hgvs_c": "n.261G>A",
"hgvs_p": null,
"transcript": "ENST00000577576.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000577576.1"
}
],
"gene_symbol": "MYO1D",
"gene_hgnc_id": 7598,
"dbsnp": "rs377477685",
"frequency_reference_population": 0.000007470547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000055014,
"gnomad_genomes_af": 0.0000262926,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42797648906707764,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.345,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4182,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.401,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015194.3",
"gene_symbol": "MYO1D",
"hgnc_id": 7598,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Val1003Met"
}
],
"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
}