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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: 22-36282736-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36282736&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002473.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0661,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03319507837295532,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5995,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_002473.6",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5995,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000216181.11",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 6092,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5878,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000685801.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5878G>T",
"hgvs_p": "p.Ala1960Ser",
"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": "A",
"aa_start": 1960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": 6051,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5878,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000955568.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5878G>T",
"hgvs_p": "p.Ala1960Ser",
"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": "A",
"aa_start": 1955,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 6042,
"cds_end": null,
"cds_length": 5931,
"cds_start": 5863,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000955563.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5863G>T",
"hgvs_p": "p.Ala1955Ser",
"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": "A",
"aa_start": 1952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": 6074,
"cds_end": null,
"cds_length": 5922,
"cds_start": 5854,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859030.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5854G>T",
"hgvs_p": "p.Ala1952Ser",
"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": "A",
"aa_start": 1951,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 6028,
"cds_end": null,
"cds_length": 5919,
"cds_start": 5851,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000955566.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5851G>T",
"hgvs_p": "p.Ala1951Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 5879,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859032.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7001,
"cdna_start": 5910,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859033.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": 5965,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859034.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": 6109,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859035.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 5990,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859036.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7172,
"cdna_start": 6087,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859037.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7418,
"cdna_start": 5961,
"cds_end": null,
"cds_length": 5883,
"cds_start": 5815,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000955567.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5815G>T",
"hgvs_p": "p.Ala1939Ser",
"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": "A",
"aa_start": 1938,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 5991,
"cds_end": null,
"cds_length": 5880,
"cds_start": 5812,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000955564.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5812G>T",
"hgvs_p": "p.Ala1938Ser",
"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": "A",
"aa_start": 1937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 5987,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5809,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000927179.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5809G>T",
"hgvs_p": "p.Ala1937Ser",
"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": "A",
"aa_start": 1937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 6030,
"cds_end": null,
"cds_length": 5877,
"cds_start": 5809,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000955562.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5809G>T",
"hgvs_p": "p.Ala1937Ser",
"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": "A",
"aa_start": 1936,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7418,
"cdna_start": 5966,
"cds_end": null,
"cds_length": 5874,
"cds_start": 5806,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000955565.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5806G>T",
"hgvs_p": "p.Ala1936Ser",
"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": "A",
"aa_start": 1935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7439,
"cdna_start": 5983,
"cds_end": null,
"cds_length": 5871,
"cds_start": 5803,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000859031.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5803G>T",
"hgvs_p": "p.Ala1935Ser",
"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": "A",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2797,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000927178.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.2797G>T",
"hgvs_p": "p.Ala933Ser",
"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": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000685708.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "n.2248G>T",
"hgvs_p": null,
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