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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: 22-36291976-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36291976&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"hgvs_c": "c.4344+10C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_002473.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1009,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "22",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 17,MYH9-related disorder,Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": null,
"cds_end": null,
"cds_length": 5883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002473.6",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4344+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216181.11",
"protein_coding": true,
"protein_id": "NP_002464.1",
"strand": false,
"transcript": "NM_002473.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": null,
"cds_end": null,
"cds_length": 5883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216181.11",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4344+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002473.6",
"protein_coding": true,
"protein_id": "ENSP00000216181.6",
"strand": false,
"transcript": "ENST00000216181.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1981,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": null,
"cds_end": null,
"cds_length": 5946,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685801.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4407+10C>T",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510688.1",
"strand": false,
"transcript": "ENST00000685801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1981,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": null,
"cds_end": null,
"cds_length": 5946,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955568.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4407+10C>T",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625627.1",
"strand": false,
"transcript": "ENST00000955568.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1976,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": null,
"cds_end": null,
"cds_length": 5931,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955563.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4392+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625622.1",
"strand": false,
"transcript": "ENST00000955563.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1973,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": null,
"cds_end": null,
"cds_length": 5922,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859030.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4383+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529089.1",
"strand": false,
"transcript": "ENST00000859030.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1972,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": null,
"cds_end": null,
"cds_length": 5919,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955566.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4380+10C>T",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625625.1",
"strand": false,
"transcript": "ENST00000955566.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": null,
"cds_end": null,
"cds_length": 5883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859032.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4344+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529091.1",
"strand": false,
"transcript": "ENST00000859032.1",
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},
{
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"aa_length": 1960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7001,
"cdna_start": null,
"cds_end": null,
"cds_length": 5883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859033.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4344+10C>T",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529092.1",
"strand": false,
"transcript": "ENST00000859033.1",
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},
{
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"aa_length": 1960,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": null,
"cds_end": null,
"cds_length": 5883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859034.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
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"intron_rank": 31,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529093.1",
"strand": false,
"transcript": "ENST00000859034.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000859035.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529094.1",
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"transcript": "ENST00000859035.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000859036.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529095.1",
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"transcript": "ENST00000859036.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000859037.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529096.1",
"strand": false,
"transcript": "ENST00000859037.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000955567.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4344+10C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625626.1",
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"transcript": "ENST00000955567.1",
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},
{
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000955564.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4341+10C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625623.1",
"strand": false,
"transcript": "ENST00000955564.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000927179.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4338+10C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597238.1",
"strand": false,
"transcript": "ENST00000927179.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000955562.1",
"gene_hgnc_id": 7579,
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"protein_id": "ENSP00000625621.1",
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},
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],
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"feature": "ENST00000955565.1",
"gene_hgnc_id": 7579,
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"protein_id": "ENSP00000625624.1",
"strand": false,
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},
{
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"consequences": [
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],
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"feature": "ENST00000859031.1",
"gene_hgnc_id": 7579,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000859031.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000927178.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.1326+10C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597237.1",
"strand": false,
"transcript": "ENST00000927178.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691109.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "n.4639+10C>T",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000691109.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200977419",
"effect": "intron_variant",
"frequency_reference_population": 0.0006251185,
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"gnomad_exomes_ac": 916,
"gnomad_exomes_af": 0.000626635,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 93,
"gnomad_genomes_af": 0.000610565,
"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": "Benign/Likely benign",
"phenotype_combined": "not specified|MYH9-related disorder|Autosomal dominant nonsyndromic hearing loss 17|not provided|Autosomal dominant nonsyndromic hearing loss 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.239,
"pos": 36291976,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"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_002473.6"
}
]
}