← Back to variant description
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: 13-48079892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=48079892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 48079892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014166.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "NM_014166.4",
"protein_id": "NP_054885.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 592,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258648.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014166.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met",
"transcript": "ENST00000258648.7",
"protein_id": "ENSP00000258648.2",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 270,
"cds_start": 592,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014166.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258648.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000963481.1",
"protein_id": "ENSP00000633540.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 282,
"cds_start": 628,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963481.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000898190.1",
"protein_id": "ENSP00000568249.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 275,
"cds_start": 607,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898190.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Val192Met",
"transcript": "ENST00000898194.1",
"protein_id": "ENSP00000568253.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 264,
"cds_start": 574,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898194.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Met",
"transcript": "ENST00000898193.1",
"protein_id": "ENSP00000568252.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 260,
"cds_start": 562,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898193.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000417167.2",
"protein_id": "ENSP00000413595.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 237,
"cds_start": 526,
"cds_end": null,
"cds_length": 715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417167.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Val152Met",
"transcript": "NM_001270629.2",
"protein_id": "NP_001257558.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 224,
"cds_start": 454,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270629.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.454G>A",
"hgvs_p": "p.Val152Met",
"transcript": "ENST00000378586.5",
"protein_id": "ENSP00000367849.1",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 224,
"cds_start": 454,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378586.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Met",
"transcript": "ENST00000898191.1",
"protein_id": "ENSP00000568250.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 213,
"cds_start": 421,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898191.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "c.508+1753G>A",
"hgvs_p": null,
"transcript": "ENST00000898192.1",
"protein_id": "ENSP00000568251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4-AS1",
"gene_hgnc_id": 39213,
"hgvs_c": "n.443C>T",
"hgvs_p": null,
"transcript": "ENST00000422483.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000422483.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"hgvs_c": "n.82G>A",
"hgvs_p": null,
"transcript": "ENST00000495013.5",
"protein_id": "ENSP00000483651.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "non_stop_decay",
"feature": "ENST00000495013.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4-AS1",
"gene_hgnc_id": 39213,
"hgvs_c": "n.735C>T",
"hgvs_p": null,
"transcript": "ENST00000844353.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000844353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED4-AS1",
"gene_hgnc_id": 39213,
"hgvs_c": "n.443C>T",
"hgvs_p": null,
"transcript": "NR_046511.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046511.1"
}
],
"gene_symbol": "MED4",
"gene_hgnc_id": 17903,
"dbsnp": "rs144201204",
"frequency_reference_population": 0.000022928361,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.00002121,
"gnomad_genomes_af": 0.0000394353,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21087995171546936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.0956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.966,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014166.4",
"gene_symbol": "MED4",
"hgnc_id": 17903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Val198Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000422483.1",
"gene_symbol": "MED4-AS1",
"hgnc_id": 39213,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.443C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}