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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: 12-115970710-TGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=115970710&ref=TGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 115970710,
"ref": "TGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_015335.5",
"consequences": [
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5949_5950delTC",
"hgvs_p": "p.Gln1984fs",
"transcript": "NM_015335.5",
"protein_id": "NP_056150.1",
"transcript_support_level": null,
"aa_start": 1983,
"aa_end": null,
"aa_length": 2210,
"cds_start": 5949,
"cds_end": null,
"cds_length": 6633,
"cdna_start": 6512,
"cdna_end": null,
"cdna_length": 9885,
"mane_select": "ENST00000281928.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015335.5"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5949_5950delTC",
"hgvs_p": "p.Gln1984fs",
"transcript": "ENST00000281928.9",
"protein_id": "ENSP00000281928.3",
"transcript_support_level": 1,
"aa_start": 1983,
"aa_end": null,
"aa_length": 2210,
"cds_start": 5949,
"cds_end": null,
"cds_length": 6633,
"cdna_start": 6512,
"cdna_end": null,
"cdna_length": 9885,
"mane_select": "NM_015335.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281928.9"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5985_5986delTC",
"hgvs_p": "p.Gln1996fs",
"transcript": "ENST00000650226.1",
"protein_id": "ENSP00000496981.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2222,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6669,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650226.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.4131_4132delTC",
"hgvs_p": "p.Gln1378fs",
"transcript": "ENST00000649607.1",
"protein_id": "ENSP00000497064.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1604,
"cds_start": 4131,
"cds_end": null,
"cds_length": 4815,
"cdna_start": 4134,
"cdna_end": null,
"cdna_length": 6740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649607.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5946_5947delTC",
"hgvs_p": "p.Gln1983fs",
"transcript": "XM_017019090.2",
"protein_id": "XP_016874579.1",
"transcript_support_level": null,
"aa_start": 1982,
"aa_end": null,
"aa_length": 2209,
"cds_start": 5946,
"cds_end": null,
"cds_length": 6630,
"cdna_start": 6509,
"cdna_end": null,
"cdna_length": 9882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019090.2"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5919_5920delTC",
"hgvs_p": "p.Gln1974fs",
"transcript": "XM_047428605.1",
"protein_id": "XP_047284561.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 2200,
"cds_start": 5919,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 6141,
"cdna_end": null,
"cdna_length": 9514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428605.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5916_5917delTC",
"hgvs_p": "p.Gln1973fs",
"transcript": "XM_047428607.1",
"protein_id": "XP_047284563.1",
"transcript_support_level": null,
"aa_start": 1972,
"aa_end": null,
"aa_length": 2199,
"cds_start": 5916,
"cds_end": null,
"cds_length": 6600,
"cdna_start": 6138,
"cdna_end": null,
"cdna_length": 9511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428607.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5547_5548delTC",
"hgvs_p": "p.Gln1850fs",
"transcript": "XM_047428608.1",
"protein_id": "XP_047284564.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2076,
"cds_start": 5547,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 6274,
"cdna_end": null,
"cdna_length": 9647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428608.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5547_5548delTC",
"hgvs_p": "p.Gln1850fs",
"transcript": "XM_047428609.1",
"protein_id": "XP_047284565.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2076,
"cds_start": 5547,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 9644,
"cdna_end": null,
"cdna_length": 13017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428609.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5547_5548delTC",
"hgvs_p": "p.Gln1850fs",
"transcript": "XM_047428610.1",
"protein_id": "XP_047284566.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2076,
"cds_start": 5547,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 7441,
"cdna_end": null,
"cdna_length": 10814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428610.1"
},
{
"aa_ref": "SQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "c.5547_5548delTC",
"hgvs_p": "p.Gln1850fs",
"transcript": "XM_047428611.1",
"protein_id": "XP_047284567.1",
"transcript_support_level": null,
"aa_start": 1849,
"aa_end": null,
"aa_length": 2076,
"cds_start": 5547,
"cds_end": null,
"cds_length": 6231,
"cdna_start": 7537,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.2163_2164delTC",
"hgvs_p": null,
"transcript": "ENST00000548784.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4250,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548784.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.4317_4318delTC",
"hgvs_p": null,
"transcript": "ENST00000648379.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7496,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.5713_5714delTC",
"hgvs_p": null,
"transcript": "ENST00000648737.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8299,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.4134_4135delTC",
"hgvs_p": null,
"transcript": "ENST00000648825.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.3960_3961delTC",
"hgvs_p": null,
"transcript": "ENST00000648916.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000648916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.*952_*953delTC",
"hgvs_p": null,
"transcript": "ENST00000649775.1",
"protein_id": "ENSP00000496984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.*952_*953delTC",
"hgvs_p": null,
"transcript": "ENST00000649775.1",
"protein_id": "ENSP00000496984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4852,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649775.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"hgvs_c": "n.*48_*49delTC",
"hgvs_p": null,
"transcript": "ENST00000548694.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000548694.2"
}
],
"gene_symbol": "MED13L",
"gene_hgnc_id": 22962,
"dbsnp": "rs869025289",
"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": 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": 9.602,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_015335.5",
"gene_symbol": "MED13L",
"hgnc_id": 22962,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5949_5950delTC",
"hgvs_p": "p.Gln1984fs"
}
],
"clinvar_disease": "Impaired intellectual development and distinctive facial features with cardiac defects",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Impaired intellectual development and distinctive facial features with cardiac defects",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}