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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: 22-36292059-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36292059&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36292059,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002473.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "NM_002473.6",
"protein_id": "NP_002464.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "ENST00000216181.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002473.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000216181.11",
"protein_id": "ENSP00000216181.6",
"transcript_support_level": 1,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": "NM_002473.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216181.11"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4334A>G",
"hgvs_p": "p.Asp1445Gly",
"transcript": "ENST00000685801.1",
"protein_id": "ENSP00000510688.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4334,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 4548,
"cdna_end": null,
"cdna_length": 7536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685801.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4334A>G",
"hgvs_p": "p.Asp1445Gly",
"transcript": "ENST00000955568.1",
"protein_id": "ENSP00000625627.1",
"transcript_support_level": null,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4334,
"cds_end": null,
"cds_length": 5946,
"cdna_start": 4507,
"cdna_end": null,
"cdna_length": 7504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955568.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4319A>G",
"hgvs_p": "p.Asp1440Gly",
"transcript": "ENST00000955563.1",
"protein_id": "ENSP00000625622.1",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1976,
"cds_start": 4319,
"cds_end": null,
"cds_length": 5931,
"cdna_start": 4498,
"cdna_end": null,
"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955563.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4310A>G",
"hgvs_p": "p.Asp1437Gly",
"transcript": "ENST00000859030.1",
"protein_id": "ENSP00000529089.1",
"transcript_support_level": null,
"aa_start": 1437,
"aa_end": null,
"aa_length": 1973,
"cds_start": 4310,
"cds_end": null,
"cds_length": 5922,
"cdna_start": 4530,
"cdna_end": null,
"cdna_length": 7531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859030.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4307A>G",
"hgvs_p": "p.Asp1436Gly",
"transcript": "ENST00000955566.1",
"protein_id": "ENSP00000625625.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4307,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 6220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955566.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859032.1",
"protein_id": "ENSP00000529091.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4335,
"cdna_end": null,
"cdna_length": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859032.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859033.1",
"protein_id": "ENSP00000529092.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4366,
"cdna_end": null,
"cdna_length": 7001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859033.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859034.1",
"protein_id": "ENSP00000529093.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4421,
"cdna_end": null,
"cdna_length": 7419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859034.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859035.1",
"protein_id": "ENSP00000529094.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4565,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859035.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859036.1",
"protein_id": "ENSP00000529095.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4446,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859036.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000859037.1",
"protein_id": "ENSP00000529096.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4543,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859037.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000955567.1",
"protein_id": "ENSP00000625626.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5883,
"cdna_start": 4417,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955567.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4268A>G",
"hgvs_p": "p.Asp1423Gly",
"transcript": "ENST00000955564.1",
"protein_id": "ENSP00000625623.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1959,
"cds_start": 4268,
"cds_end": null,
"cds_length": 5880,
"cdna_start": 4447,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955564.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4265A>G",
"hgvs_p": "p.Asp1422Gly",
"transcript": "ENST00000927179.1",
"protein_id": "ENSP00000597238.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4265,
"cds_end": null,
"cds_length": 5877,
"cdna_start": 4443,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927179.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4265A>G",
"hgvs_p": "p.Asp1422Gly",
"transcript": "ENST00000955562.1",
"protein_id": "ENSP00000625621.1",
"transcript_support_level": null,
"aa_start": 1422,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4265,
"cds_end": null,
"cds_length": 5877,
"cdna_start": 4486,
"cdna_end": null,
"cdna_length": 7485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955562.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly",
"transcript": "ENST00000955565.1",
"protein_id": "ENSP00000625624.1",
"transcript_support_level": null,
"aa_start": 1424,
"aa_end": null,
"aa_length": 1957,
"cds_start": 4271,
"cds_end": null,
"cds_length": 5874,
"cdna_start": 4431,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955565.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4259A>G",
"hgvs_p": "p.Asp1420Gly",
"transcript": "ENST00000859031.1",
"protein_id": "ENSP00000529090.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1956,
"cds_start": 4259,
"cds_end": null,
"cds_length": 5871,
"cdna_start": 4439,
"cdna_end": null,
"cdna_length": 7439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859031.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asp418Gly",
"transcript": "ENST00000927178.1",
"protein_id": "ENSP00000597237.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 954,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.4566A>G",
"hgvs_p": null,
"transcript": "ENST00000691109.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000691109.1"
}
],
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"dbsnp": "rs867593888",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9817790985107422,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.972,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.857,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.012,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002473.6",
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4271A>G",
"hgvs_p": "p.Asp1424Gly"
}
],
"clinvar_disease": "10 conditions,MYH9-related disorder",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "10 conditions|MYH9-related disorder",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}