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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: 12-115984252-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=115984252&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MED13L",
"hgnc_id": 22962,
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015335.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1351,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13879936933517456,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2210,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9885,
"cdna_start": 5021,
"cds_end": null,
"cds_length": 6633,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015335.5",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281928.9",
"protein_coding": true,
"protein_id": "NP_056150.1",
"strand": false,
"transcript": "NM_015335.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2210,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9885,
"cdna_start": 5021,
"cds_end": null,
"cds_length": 6633,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000281928.9",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015335.5",
"protein_coding": true,
"protein_id": "ENSP00000281928.3",
"strand": false,
"transcript": "ENST00000281928.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2222,
"aa_ref": "P",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8717,
"cdna_start": 4502,
"cds_end": null,
"cds_length": 6669,
"cds_start": 4459,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000650226.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4459C>T",
"hgvs_p": "p.Pro1487Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496981.1",
"strand": false,
"transcript": "ENST00000650226.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1604,
"aa_ref": "P",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6740,
"cdna_start": 2643,
"cds_end": null,
"cds_length": 4815,
"cds_start": 2641,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649607.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.2641C>T",
"hgvs_p": "p.Pro881Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497064.1",
"strand": false,
"transcript": "ENST00000649607.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "P",
"aa_start": 1296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 3887,
"cds_end": null,
"cds_length": 4635,
"cds_start": 3886,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000549786.2",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.3886C>T",
"hgvs_p": "p.Pro1296Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446782.2",
"strand": false,
"transcript": "ENST00000549786.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2209,
"aa_ref": "P",
"aa_start": 1486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9882,
"cdna_start": 5018,
"cds_end": null,
"cds_length": 6630,
"cds_start": 4456,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017019090.2",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4456C>T",
"hgvs_p": "p.Pro1486Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874579.1",
"strand": false,
"transcript": "XM_017019090.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2200,
"aa_ref": "P",
"aa_start": 1477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9514,
"cdna_start": 4650,
"cds_end": null,
"cds_length": 6603,
"cds_start": 4429,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047428605.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4429C>T",
"hgvs_p": "p.Pro1477Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284561.1",
"strand": false,
"transcript": "XM_047428605.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2199,
"aa_ref": "P",
"aa_start": 1476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9511,
"cdna_start": 4647,
"cds_end": null,
"cds_length": 6600,
"cds_start": 4426,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047428607.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4426C>T",
"hgvs_p": "p.Pro1476Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284563.1",
"strand": false,
"transcript": "XM_047428607.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2076,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9647,
"cdna_start": 4783,
"cds_end": null,
"cds_length": 6231,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047428608.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284564.1",
"strand": false,
"transcript": "XM_047428608.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2076,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13017,
"cdna_start": 8153,
"cds_end": null,
"cds_length": 6231,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047428609.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284565.1",
"strand": false,
"transcript": "XM_047428609.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2076,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10814,
"cdna_start": 5950,
"cds_end": null,
"cds_length": 6231,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047428610.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284566.1",
"strand": false,
"transcript": "XM_047428610.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2076,
"aa_ref": "P",
"aa_start": 1353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10910,
"cdna_start": 6046,
"cds_end": null,
"cds_length": 6231,
"cds_start": 4057,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047428611.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "c.4057C>T",
"hgvs_p": "p.Pro1353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284567.1",
"strand": false,
"transcript": "XM_047428611.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7496,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000648379.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.2827C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8299,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000648737.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.4223C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648737.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648825.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.1199C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000648916.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.2470C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000648916.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000649146.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.1189C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000649146.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000649775.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.955C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496984.1",
"strand": false,
"transcript": "ENST00000649775.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000650091.1",
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"hgvs_c": "n.2435C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000650091.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs146112707",
"effect": "missense_variant",
"frequency_reference_population": 0.0000012392434,
"gene_hgnc_id": 22962,
"gene_symbol": "MED13L",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84116e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657255,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.084,
"pos": 115984252,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.028,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_015335.5"
}
]
}