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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: 17-40023239-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40023239&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40023239,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000394128.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>A",
"hgvs_p": "p.Ile714Ile",
"transcript": "NM_014815.4",
"protein_id": "NP_055630.2",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": "ENST00000394128.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>A",
"hgvs_p": "p.Ile714Ile",
"transcript": "ENST00000394128.7",
"protein_id": "ENSP00000377686.2",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": "NM_014815.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2217T>A",
"hgvs_p": "p.Ile739Ile",
"transcript": "ENST00000394126.5",
"protein_id": "ENSP00000377684.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>A",
"hgvs_p": "p.Ile733Ile",
"transcript": "NM_001330211.2",
"protein_id": "NP_001317140.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>A",
"hgvs_p": "p.Ile733Ile",
"transcript": "ENST00000501516.7",
"protein_id": "ENSP00000440100.2",
"transcript_support_level": 5,
"aa_start": 733,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2103T>A",
"hgvs_p": "p.Ile701Ile",
"transcript": "NM_001079518.2",
"protein_id": "NP_001072986.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 976,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2210,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2103T>A",
"hgvs_p": "p.Ile701Ile",
"transcript": "NM_001267797.2",
"protein_id": "NP_001254726.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 976,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2103T>A",
"hgvs_p": "p.Ile701Ile",
"transcript": "ENST00000356271.7",
"protein_id": "ENSP00000348610.3",
"transcript_support_level": 2,
"aa_start": 701,
"aa_end": null,
"aa_length": 976,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2103T>A",
"hgvs_p": "p.Ile701Ile",
"transcript": "ENST00000394127.6",
"protein_id": "ENSP00000377685.2",
"transcript_support_level": 2,
"aa_start": 701,
"aa_end": null,
"aa_length": 976,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.1992T>A",
"hgvs_p": "p.Ile664Ile",
"transcript": "ENST00000535071.6",
"protein_id": "ENSP00000443344.2",
"transcript_support_level": 5,
"aa_start": 664,
"aa_end": null,
"aa_length": 790,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2441,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.413T>A",
"hgvs_p": null,
"transcript": "ENST00000492176.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 776,
"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": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.*1765T>A",
"hgvs_p": null,
"transcript": "ENST00000535508.6",
"protein_id": "ENSP00000439148.2",
"transcript_support_level": 2,
"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": 3334,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.452T>A",
"hgvs_p": null,
"transcript": "ENST00000580720.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 549,
"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": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.2153T>A",
"hgvs_p": null,
"transcript": "NR_052017.2",
"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": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.*1765T>A",
"hgvs_p": null,
"transcript": "ENST00000535508.6",
"protein_id": "ENSP00000439148.2",
"transcript_support_level": 2,
"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": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.-79T>A",
"hgvs_p": null,
"transcript": "ENST00000422942.6",
"protein_id": "ENSP00000393464.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.*50T>A",
"hgvs_p": null,
"transcript": "ENST00000580885.5",
"protein_id": "ENSP00000463751.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "n.*580T>A",
"hgvs_p": null,
"transcript": "ENST00000581058.5",
"protein_id": "ENSP00000463724.1",
"transcript_support_level": 4,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"dbsnp": "rs2302777",
"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": -0.7200000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.417,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000394128.7",
"gene_symbol": "MED24",
"hgnc_id": 22963,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2142T>A",
"hgvs_p": "p.Ile714Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}