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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: 11-77214618-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77214618&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"hgvs_c": "c.6570G>A",
"hgvs_p": "p.Met2190Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000260.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.9777,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Usher syndrome type 1B,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7686026096343994,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "M",
"aa_start": 2190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6860,
"cds_end": null,
"cds_length": 6648,
"cds_start": 6570,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_000260.4",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6570G>A",
"hgvs_p": "p.Met2190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409709.9",
"protein_coding": true,
"protein_id": "NP_000251.3",
"strand": true,
"transcript": "NM_000260.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "M",
"aa_start": 2190,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6860,
"cds_end": null,
"cds_length": 6648,
"cds_start": 6570,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000409709.9",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6570G>A",
"hgvs_p": "p.Met2190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000260.4",
"protein_coding": true,
"protein_id": "ENSP00000386331.3",
"strand": true,
"transcript": "ENST00000409709.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "M",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7336,
"cdna_start": 6716,
"cds_end": null,
"cds_length": 6528,
"cds_start": 6450,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000458637.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6450G>A",
"hgvs_p": "p.Met2150Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392185.2",
"strand": true,
"transcript": "ENST00000458637.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "M",
"aa_start": 2141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 6770,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6423,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "ENST00000409619.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6423G>A",
"hgvs_p": "p.Met2141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386635.2",
"strand": true,
"transcript": "ENST00000409619.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "M",
"aa_start": 1332,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 3996,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3996,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000458169.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.3996G>A",
"hgvs_p": "p.Met1332Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417017.2",
"strand": true,
"transcript": "ENST00000458169.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*1142G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499323.1",
"strand": true,
"transcript": "ENST00000670577.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*1142G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499323.1",
"strand": true,
"transcript": "ENST00000670577.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "M",
"aa_start": 2192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 6863,
"cds_end": null,
"cds_length": 6654,
"cds_start": 6576,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000962572.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6576G>A",
"hgvs_p": "p.Met2192Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632631.1",
"strand": true,
"transcript": "ENST00000962572.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "M",
"aa_start": 2189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7479,
"cdna_start": 6858,
"cds_end": null,
"cds_length": 6645,
"cds_start": 6567,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000962571.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6567G>A",
"hgvs_p": "p.Met2189Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632630.1",
"strand": true,
"transcript": "ENST00000962571.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "M",
"aa_start": 2150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7363,
"cdna_start": 6740,
"cds_end": null,
"cds_length": 6528,
"cds_start": 6450,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_001127180.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6450G>A",
"hgvs_p": "p.Met2150Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120652.1",
"strand": true,
"transcript": "NM_001127180.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "M",
"aa_start": 2141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7449,
"cdna_start": 6826,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6423,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "NM_001369365.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6423G>A",
"hgvs_p": "p.Met2141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356294.1",
"strand": true,
"transcript": "NM_001369365.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2245,
"aa_ref": "M",
"aa_start": 2220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 6757,
"cds_end": null,
"cds_length": 6738,
"cds_start": 6660,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017017780.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6660G>A",
"hgvs_p": "p.Met2220Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873269.1",
"strand": true,
"transcript": "XM_017017780.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2207,
"aa_ref": "M",
"aa_start": 2182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7266,
"cdna_start": 6643,
"cds_end": null,
"cds_length": 6624,
"cds_start": 6546,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017017788.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6546G>A",
"hgvs_p": "p.Met2182Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873277.1",
"strand": true,
"transcript": "XM_017017788.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2206,
"aa_ref": "M",
"aa_start": 2181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7263,
"cdna_start": 6640,
"cds_end": null,
"cds_length": 6621,
"cds_start": 6543,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_017017784.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6543G>A",
"hgvs_p": "p.Met2181Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873273.1",
"strand": true,
"transcript": "XM_017017784.2",
"transcript_support_level": null
},
{
"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": 5740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000481328.7",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.5120G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481328.7",
"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": 2705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000605744.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.2084G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000605744.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs376900309",
"effect": "missense_variant",
"frequency_reference_population": 0.000023391665,
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"gnomad_exomes_ac": 35,
"gnomad_exomes_af": 0.0000244817,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131473,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified|not provided|Usher syndrome type 1B|Inborn genetic diseases",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.547,
"pos": 77214618,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.594,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_000260.4"
}
]
}