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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: 22-36293374-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36293374&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36293374,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002473.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "NM_002473.6",
"protein_id": "NP_002464.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216181.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002473.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000216181.11",
"protein_id": "ENSP00000216181.6",
"transcript_support_level": 1,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002473.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216181.11"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4113G>C",
"hgvs_p": "p.Glu1371Asp",
"transcript": "ENST00000685801.1",
"protein_id": "ENSP00000510688.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4113,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685801.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4113G>C",
"hgvs_p": "p.Glu1371Asp",
"transcript": "ENST00000955568.1",
"protein_id": "ENSP00000625627.1",
"transcript_support_level": null,
"aa_start": 1371,
"aa_end": null,
"aa_length": 1981,
"cds_start": 4113,
"cds_end": null,
"cds_length": 5946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955568.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4098G>C",
"hgvs_p": "p.Glu1366Asp",
"transcript": "ENST00000955563.1",
"protein_id": "ENSP00000625622.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1976,
"cds_start": 4098,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955563.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4089G>C",
"hgvs_p": "p.Glu1363Asp",
"transcript": "ENST00000859030.1",
"protein_id": "ENSP00000529089.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1973,
"cds_start": 4089,
"cds_end": null,
"cds_length": 5922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859030.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4086G>C",
"hgvs_p": "p.Glu1362Asp",
"transcript": "ENST00000955566.1",
"protein_id": "ENSP00000625625.1",
"transcript_support_level": null,
"aa_start": 1362,
"aa_end": null,
"aa_length": 1972,
"cds_start": 4086,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955566.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859032.1",
"protein_id": "ENSP00000529091.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859032.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859033.1",
"protein_id": "ENSP00000529092.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859033.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859034.1",
"protein_id": "ENSP00000529093.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859034.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859035.1",
"protein_id": "ENSP00000529094.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859035.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859036.1",
"protein_id": "ENSP00000529095.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859036.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000859037.1",
"protein_id": "ENSP00000529096.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859037.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000955567.1",
"protein_id": "ENSP00000625626.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1960,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955567.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4047G>C",
"hgvs_p": "p.Glu1349Asp",
"transcript": "ENST00000955564.1",
"protein_id": "ENSP00000625623.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1959,
"cds_start": 4047,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955564.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4044G>C",
"hgvs_p": "p.Glu1348Asp",
"transcript": "ENST00000927179.1",
"protein_id": "ENSP00000597238.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4044,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927179.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4044G>C",
"hgvs_p": "p.Glu1348Asp",
"transcript": "ENST00000955562.1",
"protein_id": "ENSP00000625621.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1958,
"cds_start": 4044,
"cds_end": null,
"cds_length": 5877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955562.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp",
"transcript": "ENST00000955565.1",
"protein_id": "ENSP00000625624.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1957,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955565.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.4038G>C",
"hgvs_p": "p.Glu1346Asp",
"transcript": "ENST00000859031.1",
"protein_id": "ENSP00000529090.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1956,
"cds_start": 4038,
"cds_end": null,
"cds_length": 5871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859031.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Glu344Asp",
"transcript": "ENST00000927178.1",
"protein_id": "ENSP00000597237.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 954,
"cds_start": 1032,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 24,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"hgvs_c": "n.4345G>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000691109.1"
}
],
"gene_symbol": "MYH9",
"gene_hgnc_id": 7579,
"dbsnp": "rs375955867",
"frequency_reference_population": 0.000024233897,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000205876,
"gnomad_genomes_af": 0.0000591607,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.47078201174736023,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1453,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.787,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002473.6",
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4050G>C",
"hgvs_p": "p.Glu1350Asp"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 17,Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not specified|not provided|Autosomal dominant nonsyndromic hearing loss 17;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}