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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: 12-116009071-C-CTGGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=116009071&ref=C&alt=CTGGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 116009071,
"ref": "C",
"alt": "CTGGT",
"effect": "frameshift_variant",
"transcript": "ENST00000281928.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1338_1341dupACCA",
"hgvs_p": "p.Gly448fs",
"transcript": "NM_015335.5",
"protein_id": "NP_056150.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 2210,
"cds_start": 1341,
"cds_end": null,
"cds_length": 6633,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 9885,
"mane_select": "ENST00000281928.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1338_1341dupACCA",
"hgvs_p": "p.Gly448fs",
"transcript": "ENST00000281928.9",
"protein_id": "ENSP00000281928.3",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 2210,
"cds_start": 1341,
"cds_end": null,
"cds_length": 6633,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 9885,
"mane_select": "NM_015335.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1338_1341dupACCA",
"hgvs_p": "p.Gly448fs",
"transcript": "ENST00000650226.1",
"protein_id": "ENSP00000496981.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 2222,
"cds_start": 1341,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 1384,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.765_768dupACCA",
"hgvs_p": "p.Gly257fs",
"transcript": "ENST00000549786.2",
"protein_id": "ENSP00000446782.2",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 1544,
"cds_start": 768,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1308_1311dupACCA",
"hgvs_p": "p.Gly438fs",
"transcript": "ENST00000548743.2",
"protein_id": "ENSP00000448553.2",
"transcript_support_level": 3,
"aa_start": 437,
"aa_end": null,
"aa_length": 1080,
"cds_start": 1311,
"cds_end": null,
"cds_length": 3244,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1245_1248dupACCA",
"hgvs_p": "p.Gly417fs",
"transcript": "ENST00000647567.1",
"protein_id": "ENSP00000497136.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 436,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1312,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1338_1341dupACCA",
"hgvs_p": "p.Gly448fs",
"transcript": "XM_017019090.2",
"protein_id": "XP_016874579.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 2209,
"cds_start": 1341,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 9882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1308_1311dupACCA",
"hgvs_p": "p.Gly438fs",
"transcript": "XM_047428605.1",
"protein_id": "XP_047284561.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 2200,
"cds_start": 1311,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.1308_1311dupACCA",
"hgvs_p": "p.Gly438fs",
"transcript": "XM_047428607.1",
"protein_id": "XP_047284563.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 2199,
"cds_start": 1311,
"cds_end": null,
"cds_length": 6600,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 9511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.936_939dupACCA",
"hgvs_p": "p.Gly314fs",
"transcript": "XM_047428608.1",
"protein_id": "XP_047284564.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 2076,
"cds_start": 939,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.936_939dupACCA",
"hgvs_p": "p.Gly314fs",
"transcript": "XM_047428609.1",
"protein_id": "XP_047284565.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 2076,
"cds_start": 939,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 5035,
"cdna_end": null,
"cdna_length": 13017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.936_939dupACCA",
"hgvs_p": "p.Gly314fs",
"transcript": "XM_047428610.1",
"protein_id": "XP_047284566.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 2076,
"cds_start": 939,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 10814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "PT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.936_939dupACCA",
"hgvs_p": "p.Gly314fs",
"transcript": "XM_047428611.1",
"protein_id": "XP_047284567.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 2076,
"cds_start": 939,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.71_74dupACCA",
"hgvs_p": null,
"transcript": "ENST00000549755.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.1102_1105dupACCA",
"hgvs_p": null,
"transcript": "ENST00000648737.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.1898_1901dupACCA",
"hgvs_p": null,
"transcript": "ENST00000649762.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.-60_-57dupACCA",
"hgvs_p": null,
"transcript": "ENST00000649655.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"dbsnp": "rs1555248025",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.138,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000281928.9",
"gene_symbol": "MED13L",
"hgnc_id": 22962,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1338_1341dupACCA",
"hgvs_p": "p.Gly448fs"
}
],
"clinvar_disease": "Cardiac anomalies - developmental delay - facial dysmorphism syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Cardiac anomalies - developmental delay - facial dysmorphism syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}