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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: 22-36341393-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36341393&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36341393,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000216181.11",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "NM_002473.6",
"protein_id": "NP_002464.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1960,
"cds_start": 467,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "ENST00000216181.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "ENST00000216181.11",
"protein_id": "ENSP00000216181.6",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 1960,
"cds_start": 467,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "NM_002473.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "ENST00000401701.1",
"protein_id": "ENSP00000384631.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 218,
"cds_start": 467,
"cds_end": null,
"cds_length": 657,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "ENST00000685801.1",
"protein_id": "ENSP00000510688.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1981,
"cds_start": 467,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "ENST00000688137.1",
"protein_id": "ENSP00000510189.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 224,
"cds_start": 467,
"cds_end": null,
"cds_length": 675,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser",
"transcript": "ENST00000691296.1",
"protein_id": "ENSP00000509816.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 207,
"cds_start": 467,
"cds_end": null,
"cds_length": 624,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.681C>G",
"hgvs_p": null,
"transcript": "ENST00000685187.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.690C>G",
"hgvs_p": null,
"transcript": "ENST00000685191.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.681C>G",
"hgvs_p": null,
"transcript": "ENST00000691687.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.681C>G",
"hgvs_p": null,
"transcript": "ENST00000692930.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287269",
"gene_hgnc_id": null,
"hgvs_c": "n.291-1223G>C",
"hgvs_p": null,
"transcript": "ENST00000663925.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"dbsnp": "rs931698088",
"frequency_reference_population": 0.000003098047,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273649,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.317396879196167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.309,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000216181.11",
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Thr156Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000663925.2",
"gene_symbol": "ENSG00000287269",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.291-1223G>C",
"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
}