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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: 5-16713356-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=16713356&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 16713356,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_012334.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1930-2111G>A",
"hgvs_p": null,
"transcript": "NM_012334.3",
"protein_id": "NP_036466.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2058,
"cds_start": null,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000513610.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012334.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1930-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000513610.6",
"protein_id": "ENSP00000421280.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2058,
"cds_start": null,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012334.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513610.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.-24G>A",
"hgvs_p": null,
"transcript": "XM_005248306.5",
"protein_id": "XP_005248363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": null,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248306.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1930-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000274203.13",
"protein_id": "ENSP00000274203.10",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2069,
"cds_start": null,
"cds_end": null,
"cds_length": 6210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274203.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.-54-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000505695.5",
"protein_id": "ENSP00000421170.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1397,
"cds_start": null,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505695.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.-54-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000515803.5",
"protein_id": "ENSP00000425051.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1397,
"cds_start": null,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515803.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1963-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000513882.5",
"protein_id": "ENSP00000421309.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": null,
"cds_end": null,
"cds_length": 2491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513882.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1861-2111G>A",
"hgvs_p": null,
"transcript": "XM_006714475.4",
"protein_id": "XP_006714538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2035,
"cds_start": null,
"cds_end": null,
"cds_length": 6108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714475.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1-2111G>A",
"hgvs_p": null,
"transcript": "XM_005248307.3",
"protein_id": "XP_005248364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1415,
"cds_start": null,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248307.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "c.1-2111G>A",
"hgvs_p": null,
"transcript": "XM_011514046.3",
"protein_id": "XP_011512348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1415,
"cds_start": null,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514046.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "n.113G>A",
"hgvs_p": null,
"transcript": "ENST00000511972.1",
"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": "retained_intron",
"feature": "ENST00000511972.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "n.108-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000506343.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000506343.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "n.107-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000508318.5",
"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": "ENST00000508318.5"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "n.191-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000510401.6",
"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": "ENST00000510401.6"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"hgvs_c": "n.341-2111G>A",
"hgvs_p": null,
"transcript": "ENST00000512061.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000512061.5"
}
],
"gene_symbol": "MYO10",
"gene_hgnc_id": 7593,
"dbsnp": "rs31299",
"frequency_reference_population": 0.795263,
"hom_count_reference_population": 312907,
"allele_count_reference_population": 783641,
"gnomad_exomes_af": 0.801152,
"gnomad_genomes_af": 0.762971,
"gnomad_exomes_ac": 667674,
"gnomad_genomes_ac": 115967,
"gnomad_exomes_homalt": 268111,
"gnomad_genomes_homalt": 44796,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.018,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_012334.3",
"gene_symbol": "MYO10",
"hgnc_id": 7593,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1930-2111G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}