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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: 13-20223218-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20223218&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20223218,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000647029.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001110219.3",
"protein_id": "NP_001103689.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000647029.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000647029.1",
"protein_id": "ENSP00000493834.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_001110219.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000241124.11",
"protein_id": "ENSP00000241124.6",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000400065.7",
"protein_id": "ENSP00000382938.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000400066.8",
"protein_id": "ENSP00000382939.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001110220.3",
"protein_id": "NP_001103690.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001110221.3",
"protein_id": "NP_001103691.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001370090.1",
"protein_id": "NP_001357019.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001370091.1",
"protein_id": "NP_001357020.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_001370092.1",
"protein_id": "NP_001357021.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "NM_006783.5",
"protein_id": "NP_006774.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000636852.1",
"protein_id": "ENSP00000489698.1",
"transcript_support_level": 4,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000643121.1",
"protein_id": "ENSP00000494468.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000643211.1",
"protein_id": "ENSP00000495841.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000644283.1",
"protein_id": "ENSP00000495320.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000644667.1",
"protein_id": "ENSP00000493621.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000647243.1",
"protein_id": "ENSP00000494733.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000644236.1",
"protein_id": "ENSP00000494122.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 107,
"cds_start": 263,
"cds_end": null,
"cds_length": 324,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "ENST00000645654.1",
"protein_id": "ENSP00000494720.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 102,
"cds_start": 263,
"cds_end": null,
"cds_length": 309,
"cdna_start": 486,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "XM_047430056.1",
"protein_id": "XP_047286012.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val",
"transcript": "XM_047430057.1",
"protein_id": "XP_047286013.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 261,
"cds_start": 263,
"cds_end": null,
"cds_length": 786,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.*27C>T",
"hgvs_p": null,
"transcript": "ENST00000646108.1",
"protein_id": "ENSP00000493512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": -4,
"cds_end": null,
"cds_length": 236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"hgvs_c": "c.*127C>T",
"hgvs_p": null,
"transcript": "ENST00000642251.1",
"protein_id": "ENSP00000495437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": -4,
"cds_end": null,
"cds_length": 136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"dbsnp": "rs28937872",
"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": 0.9886435270309448,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.924,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5559,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.695,
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000647029.1",
"gene_symbol": "GJB6",
"hgnc_id": 4288,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.263C>T",
"hgvs_p": "p.Ala88Val"
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 3B,Autosomal recessive nonsyndromic hearing loss 1A,Autosomal recessive nonsyndromic hearing loss 1B,Hidrotic ectodermal dysplasia syndrome,X-linked mixed hearing loss with perilymphatic gusher",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Hidrotic ectodermal dysplasia syndrome|Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;Autosomal recessive nonsyndromic hearing loss 1A|Hidrotic ectodermal dysplasia syndrome;Autosomal recessive nonsyndromic hearing loss 1B;Autosomal dominant nonsyndromic hearing loss 3B;X-linked mixed hearing loss with perilymphatic gusher;Autosomal recessive nonsyndromic hearing loss 1A",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}