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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: 10-93310040-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=93310040&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 93310040,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013451.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6127G>A",
"hgvs_p": "p.Val2043Met",
"transcript": "NM_013451.4",
"protein_id": "NP_038479.1",
"transcript_support_level": null,
"aa_start": 2043,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6127,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359263.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013451.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6127G>A",
"hgvs_p": "p.Val2043Met",
"transcript": "ENST00000359263.9",
"protein_id": "ENSP00000352208.4",
"transcript_support_level": 1,
"aa_start": 2043,
"aa_end": null,
"aa_length": 2061,
"cds_start": 6127,
"cds_end": null,
"cds_length": 6186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013451.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359263.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6088G>A",
"hgvs_p": "p.Val2030Met",
"transcript": "ENST00000358334.9",
"protein_id": "ENSP00000351094.5",
"transcript_support_level": 1,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2048,
"cds_start": 6088,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358334.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6256G>A",
"hgvs_p": "p.Val2086Met",
"transcript": "ENST00000941957.1",
"protein_id": "ENSP00000612016.1",
"transcript_support_level": null,
"aa_start": 2086,
"aa_end": null,
"aa_length": 2104,
"cds_start": 6256,
"cds_end": null,
"cds_length": 6315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941957.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6184G>A",
"hgvs_p": "p.Val2062Met",
"transcript": "ENST00000941955.1",
"protein_id": "ENSP00000612014.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6184,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941955.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6145G>A",
"hgvs_p": "p.Val2049Met",
"transcript": "ENST00000941956.1",
"protein_id": "ENSP00000612015.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2067,
"cds_start": 6145,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941956.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6088G>A",
"hgvs_p": "p.Val2030Met",
"transcript": "NM_133337.3",
"protein_id": "NP_579899.1",
"transcript_support_level": null,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2048,
"cds_start": 6088,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133337.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6184G>A",
"hgvs_p": "p.Val2062Met",
"transcript": "XM_005269693.5",
"protein_id": "XP_005269750.1",
"transcript_support_level": null,
"aa_start": 2062,
"aa_end": null,
"aa_length": 2080,
"cds_start": 6184,
"cds_end": null,
"cds_length": 6243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269693.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6145G>A",
"hgvs_p": "p.Val2049Met",
"transcript": "XM_005269694.6",
"protein_id": "XP_005269751.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2067,
"cds_start": 6145,
"cds_end": null,
"cds_length": 6204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269694.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.6130G>A",
"hgvs_p": "p.Val2044Met",
"transcript": "XM_047425048.1",
"protein_id": "XP_047281004.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2062,
"cds_start": 6130,
"cds_end": null,
"cds_length": 6189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425048.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.5758G>A",
"hgvs_p": "p.Val1920Met",
"transcript": "XM_017016068.3",
"protein_id": "XP_016871557.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5758,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016068.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.5758G>A",
"hgvs_p": "p.Val1920Met",
"transcript": "XM_017016069.2",
"protein_id": "XP_016871558.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5758,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016069.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.5758G>A",
"hgvs_p": "p.Val1920Met",
"transcript": "XM_047425049.1",
"protein_id": "XP_047281005.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 1938,
"cds_start": 5758,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425049.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "c.5614G>A",
"hgvs_p": "p.Val1872Met",
"transcript": "XM_047425050.1",
"protein_id": "XP_047281006.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "n.*686G>A",
"hgvs_p": null,
"transcript": "ENST00000463743.5",
"protein_id": "ENSP00000432708.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"hgvs_c": "n.*686G>A",
"hgvs_p": null,
"transcript": "ENST00000463743.5",
"protein_id": "ENSP00000432708.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297060",
"gene_hgnc_id": null,
"hgvs_c": "n.171-3135C>T",
"hgvs_p": null,
"transcript": "ENST00000745037.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000745037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000297060",
"gene_hgnc_id": null,
"hgvs_c": "n.836-3135C>T",
"hgvs_p": null,
"transcript": "ENST00000745038.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000745038.1"
}
],
"gene_symbol": "MYOF",
"gene_hgnc_id": 3656,
"dbsnp": "rs780555861",
"frequency_reference_population": 0.000032839704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000321506,
"gnomad_genomes_af": 0.0000394659,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5011159777641296,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.283,
"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": 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_013451.4",
"gene_symbol": "MYOF",
"hgnc_id": 3656,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.6127G>A",
"hgvs_p": "p.Val2043Met"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000745037.1",
"gene_symbol": "ENSG00000297060",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171-3135C>T",
"hgvs_p": null
}
],
"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
}