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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: 22-36305984-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36305984&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_002473.6",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9722,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"chr": "22",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "MYH9-related disorder,Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:8 LP:2 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9911465644836426,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_002473.6",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000216181.11",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 2382,
"cds_end": null,
"cds_length": 5946,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000685801.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "R",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 5946,
"cds_start": 2168,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000955568.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2168G>A",
"hgvs_p": "p.Arg723His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1976,
"aa_ref": "R",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 5931,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000955563.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1973,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 5922,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859030.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"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": "H",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000955566.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"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
},
{
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"aa_length": 1960,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859032.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529091.1",
"strand": false,
"transcript": "ENST00000859032.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1960,
"aa_ref": "R",
"aa_start": 702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7001,
"cdna_start": 2200,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859033.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529092.1",
"strand": false,
"transcript": "ENST00000859033.1",
"transcript_support_level": null
},
{
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"aa_length": 1960,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000859034.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529093.1",
"strand": false,
"transcript": "ENST00000859034.1",
"transcript_support_level": null
},
{
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"aa_length": 1960,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": 2399,
"cds_end": null,
"cds_length": 5883,
"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
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"feature": "ENST00000859035.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
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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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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2280,
"cds_end": 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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},
{
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000859037.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529096.1",
"strand": false,
"transcript": "ENST00000859037.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2251,
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"consequences": [
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],
"exon_count": 41,
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"feature": "ENST00000955567.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
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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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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 2284,
"cds_end": null,
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"cds_start": 2105,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000955564.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": 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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"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 2283,
"cds_end": null,
"cds_length": 5877,
"cds_start": 2105,
"consequences": [
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],
"exon_count": 41,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000927179.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000597238.1",
"strand": false,
"transcript": "ENST00000927179.1",
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},
{
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],
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"feature": "ENST00000955562.1",
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"protein_coding": true,
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"feature": "ENST00000955565.1",
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"protein_coding": true,
"protein_id": "ENSP00000625624.1",
"strand": false,
"transcript": "ENST00000955565.1",
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},
{
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"consequences": [
"missense_variant"
],
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"feature": "ENST00000859031.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2105G>A",
"hgvs_p": "p.Arg702His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529090.1",
"strand": false,
"transcript": "ENST00000859031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": null,
"cds_end": null,
"cds_length": 2865,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927178.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.679-11752G>A",
"hgvs_p": null,
"intron_rank": 6,
"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
},
{
"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": 702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
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"feature": "ENST00000687922.1",
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{
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],
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|MYH9-related disorder|not provided",
"phylop100way_prediction": "Pathogenic",
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}
]
}