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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: 22-36285871-CC-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36285871&ref=CC&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002473.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_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.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"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": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5324,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000216181.11",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"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": "S",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "G",
"aa_start": 1736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 5421,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5206,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685801.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5206_5207delGGinsTC",
"hgvs_p": "p.Gly1736Ser",
"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": "S",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "G",
"aa_start": 1736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": 5380,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5206,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955568.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5206_5207delGGinsTC",
"hgvs_p": "p.Gly1736Ser",
"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": "S",
"aa_end": null,
"aa_length": 1976,
"aa_ref": "G",
"aa_start": 1731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 5371,
"cds_end": null,
"cds_length": 5931,
"cds_start": 5191,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955563.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5191_5192delGGinsTC",
"hgvs_p": "p.Gly1731Ser",
"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": "S",
"aa_end": null,
"aa_length": 1973,
"aa_ref": "G",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": 5403,
"cds_end": null,
"cds_length": 5922,
"cds_start": 5182,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859030.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5182_5183delGGinsTC",
"hgvs_p": "p.Gly1728Ser",
"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": "S",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "G",
"aa_start": 1727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 5357,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5179,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955566.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5179_5180delGGinsTC",
"hgvs_p": "p.Gly1727Ser",
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 5208,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859032.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"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": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7001,
"cdna_start": 5239,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859033.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": 5294,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859034.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529093.1",
"strand": false,
"transcript": "ENST00000859034.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": 5438,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859035.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529094.1",
"strand": false,
"transcript": "ENST00000859035.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 5319,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859036.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529095.1",
"strand": false,
"transcript": "ENST00000859036.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7172,
"cdna_start": 5416,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859037.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529096.1",
"strand": false,
"transcript": "ENST00000859037.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7418,
"cdna_start": 5290,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955567.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625626.1",
"strand": false,
"transcript": "ENST00000955567.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1959,
"aa_ref": "G",
"aa_start": 1714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 5320,
"cds_end": null,
"cds_length": 5880,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955564.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5140_5141delGGinsTC",
"hgvs_p": "p.Gly1714Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625623.1",
"strand": false,
"transcript": "ENST00000955564.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1958,
"aa_ref": "G",
"aa_start": 1713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 5316,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5137,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927179.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5137_5138delGGinsTC",
"hgvs_p": "p.Gly1713Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597238.1",
"strand": false,
"transcript": "ENST00000927179.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1958,
"aa_ref": "G",
"aa_start": 1713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 5359,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5137,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955562.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5137_5138delGGinsTC",
"hgvs_p": "p.Gly1713Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625621.1",
"strand": false,
"transcript": "ENST00000955562.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1957,
"aa_ref": "G",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7418,
"cdna_start": 5304,
"cds_end": null,
"cds_length": 5874,
"cds_start": 5143,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955565.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5143_5144delGGinsTC",
"hgvs_p": "p.Gly1715Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625624.1",
"strand": false,
"transcript": "ENST00000955565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1956,
"aa_ref": "G",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7439,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 5871,
"cds_start": 5131,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859031.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5131_5132delGGinsTC",
"hgvs_p": "p.Gly1711Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529090.1",
"strand": false,
"transcript": "ENST00000859031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 954,
"aa_ref": "G",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2125,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927178.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2125_2126delGGinsTC",
"hgvs_p": "p.Gly709Ser",
"intron_rank": null,
"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": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 768,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
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