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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: 13-20222791-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20222791&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20222791,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000647029.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001110219.3",
"protein_id": "NP_001103689.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "ENST00000647029.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000647029.1",
"protein_id": "ENSP00000493834.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": "NM_001110219.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000241124.11",
"protein_id": "ENSP00000241124.6",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000400065.7",
"protein_id": "ENSP00000382938.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000400066.8",
"protein_id": "ENSP00000382939.3",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001110220.3",
"protein_id": "NP_001103690.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001110221.3",
"protein_id": "NP_001103691.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001370090.1",
"protein_id": "NP_001357019.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001370091.1",
"protein_id": "NP_001357020.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_001370092.1",
"protein_id": "NP_001357021.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "NM_006783.5",
"protein_id": "NP_006774.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000636852.1",
"protein_id": "ENSP00000489698.1",
"transcript_support_level": 4,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000643121.1",
"protein_id": "ENSP00000494468.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000643211.1",
"protein_id": "ENSP00000495841.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000644283.1",
"protein_id": "ENSP00000495320.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000644667.1",
"protein_id": "ENSP00000493621.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "ENST00000647243.1",
"protein_id": "ENSP00000494733.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "XM_047430056.1",
"protein_id": "XP_047286012.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.689delA",
"hgvs_p": "p.Asn230fs",
"transcript": "XM_047430057.1",
"protein_id": "XP_047286013.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 261,
"cds_start": 689,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GJB6",
"gene_hgnc_id": 4288,
"dbsnp": "rs398124237",
"frequency_reference_population": 0.0000043375935,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410481,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.499,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647029.1",
"gene_symbol": "GJB6",
"hgnc_id": 4288,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.689delA",
"hgvs_p": "p.Asn230fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}