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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: 1-43389985-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43389985&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SZT2",
"hgnc_id": 29040,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001365999.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MED8",
"hgnc_id": 19971,
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_052877.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1104,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2669577896595001,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3432,
"aa_ref": "P",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14136,
"cdna_start": 87,
"cds_end": null,
"cds_length": 10299,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 72,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001365999.1",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000634258.3",
"protein_coding": true,
"protein_id": "NP_001352928.1",
"strand": true,
"transcript": "NM_001365999.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3432,
"aa_ref": "P",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14136,
"cdna_start": 87,
"cds_end": null,
"cds_length": 10299,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 72,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000634258.3",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365999.1",
"protein_coding": true,
"protein_id": "ENSP00000489255.1",
"strand": true,
"transcript": "ENST00000634258.3",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 178,
"aa_ref": "P",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 104,
"cds_end": null,
"cds_length": 537,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000372450.8",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361528.4",
"strand": true,
"transcript": "ENST00000372450.8",
"transcript_support_level": 1
},
{
"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": 1601,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000357658.4",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "n.35C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000357658.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3375,
"aa_ref": "P",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13965,
"cdna_start": 87,
"cds_end": null,
"cds_length": 10128,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 71,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015284.4",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056099.3",
"strand": true,
"transcript": "NM_015284.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 3375,
"aa_ref": "P",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13968,
"cdna_start": 90,
"cds_end": null,
"cds_length": 10128,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 71,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000562955.2",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Pro6Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457168.1",
"strand": true,
"transcript": "ENST00000562955.2",
"transcript_support_level": 5
},
{
"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": 2198,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000406439.7",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "n.17C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000386070.2",
"strand": true,
"transcript": "ENST00000406439.7",
"transcript_support_level": 2
},
{
"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": 2574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000638631.1",
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"hgvs_c": "n.87C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000638631.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201542.5",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372457.9",
"protein_coding": true,
"protein_id": "NP_963836.2",
"strand": true,
"transcript": "NM_201542.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372457.9",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201542.5",
"protein_coding": true,
"protein_id": "ENSP00000361535.4",
"strand": true,
"transcript": "ENST00000372457.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 179,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": null,
"cds_end": null,
"cds_length": 540,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372455.4",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-531G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361533.4",
"strand": true,
"transcript": "ENST00000372455.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052877.5",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_443109.2",
"strand": true,
"transcript": "NM_052877.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 301,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": null,
"cds_end": null,
"cds_length": 906,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000290663.10",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000290663.6",
"strand": true,
"transcript": "ENST00000290663.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939322.1",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609381.1",
"strand": true,
"transcript": "ENST00000939322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 185,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": 558,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939324.1",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609383.1",
"strand": true,
"transcript": "ENST00000939324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": 543,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000939323.1",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-221G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609382.1",
"strand": true,
"transcript": "ENST00000939323.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 179,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": null,
"cds_end": null,
"cds_length": 540,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001001653.3",
"gene_hgnc_id": 19971,
"gene_symbol": "MED8",
"hgvs_c": "c.-531G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001653.1",
"strand": true,
"transcript": "NM_001001653.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs759762015",
"effect": "missense_variant",
"frequency_reference_population": 0.0000016106924,
"gene_hgnc_id": 29040,
"gene_symbol": "SZT2",
"gnomad_exomes_ac": 2,
"gnomad_exomes_af": 0.00000161069,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"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": 3.358,
"pos": 43389985,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.232,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001365999.1"
}
]
}