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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: 20-62308109-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=62308109&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADRM1",
"hgnc_id": 15759,
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_007002.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LAMA5",
"hgnc_id": 6485,
"hgvs_c": "n.740T>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000492698.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 1016,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "20",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5600000023841858,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_007002.4",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253003.7",
"protein_coding": true,
"protein_id": "NP_008933.2",
"strand": true,
"transcript": "NM_007002.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1379,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000253003.7",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007002.4",
"protein_coding": true,
"protein_id": "ENSP00000253003.2",
"strand": true,
"transcript": "ENST00000253003.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 432,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1299,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906321.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576380.1",
"strand": true,
"transcript": "ENST00000906321.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 424,
"aa_ref": "P",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1275,
"cds_start": 996,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906322.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.996A>G",
"hgvs_p": "p.Pro332Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576381.1",
"strand": true,
"transcript": "ENST00000906322.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 1245,
"cds_start": 966,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906315.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.966A>G",
"hgvs_p": "p.Pro322Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576374.1",
"strand": true,
"transcript": "ENST00000906315.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1245,
"cds_start": 966,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906328.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.966A>G",
"hgvs_p": "p.Pro322Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576387.1",
"strand": true,
"transcript": "ENST00000906328.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1245,
"cds_start": 966,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906329.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.966A>G",
"hgvs_p": "p.Pro322Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576388.1",
"strand": true,
"transcript": "ENST00000906329.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_175573.2",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_783163.1",
"strand": true,
"transcript": "NM_175573.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000491935.5",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478877.1",
"strand": true,
"transcript": "ENST00000491935.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906311.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576370.1",
"strand": true,
"transcript": "ENST00000906311.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906312.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576371.1",
"strand": true,
"transcript": "ENST00000906312.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906313.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576372.1",
"strand": true,
"transcript": "ENST00000906313.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2143,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906314.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576373.1",
"strand": true,
"transcript": "ENST00000906314.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906316.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576375.1",
"strand": true,
"transcript": "ENST00000906316.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906319.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576378.1",
"strand": true,
"transcript": "ENST00000906319.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906326.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576384.1",
"strand": true,
"transcript": "ENST00000906326.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000906327.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576385.1",
"strand": true,
"transcript": "ENST00000906327.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1349,
"cdna_start": 972,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906330.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576389.1",
"strand": true,
"transcript": "ENST00000906330.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946004.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616063.1",
"strand": true,
"transcript": "ENST00000946004.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 407,
"aa_ref": "P",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1224,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000946005.1",
"gene_hgnc_id": 15759,
"gene_symbol": "ADRM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Pro315Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616064.1",
"strand": true,
"transcript": "ENST00000946005.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 404,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
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"gene_symbol": "ADRM1",
"gnomad_exomes_ac": 459,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 4,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.156,
"pos": 62308109,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_007002.4"
}
]
}