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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: 6-132815028-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=132815028&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 132815028,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001016.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "NM_001016.4",
"protein_id": "NP_001007.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230050.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001016.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000230050.4",
"protein_id": "ENSP00000230050.3",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001016.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230050.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914103.1",
"protein_id": "ENSP00000584162.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 220,
"cds_start": 71,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914103.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914107.1",
"protein_id": "ENSP00000584166.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 205,
"cds_start": 71,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914107.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914108.1",
"protein_id": "ENSP00000584167.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 178,
"cds_start": 71,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914108.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914114.1",
"protein_id": "ENSP00000584173.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 147,
"cds_start": 71,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914114.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914106.1",
"protein_id": "ENSP00000584165.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 142,
"cds_start": 71,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914106.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000877751.1",
"protein_id": "ENSP00000547810.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877751.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000877752.1",
"protein_id": "ENSP00000547811.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877752.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914102.1",
"protein_id": "ENSP00000584161.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914102.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914105.1",
"protein_id": "ENSP00000584164.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 132,
"cds_start": 71,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914105.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914101.1",
"protein_id": "ENSP00000584160.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 127,
"cds_start": 71,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914101.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914109.1",
"protein_id": "ENSP00000584168.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 126,
"cds_start": 71,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914109.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914113.1",
"protein_id": "ENSP00000584172.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 108,
"cds_start": 71,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914113.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914104.1",
"protein_id": "ENSP00000584163.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 98,
"cds_start": 71,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914104.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile",
"transcript": "ENST00000914111.1",
"protein_id": "ENSP00000584170.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 82,
"cds_start": 71,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.14+246C>T",
"hgvs_p": null,
"transcript": "ENST00000877750.1",
"protein_id": "ENSP00000547809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.60+11C>T",
"hgvs_p": null,
"transcript": "ENST00000914112.1",
"protein_id": "ENSP00000584171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914112.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "c.14+246C>T",
"hgvs_p": null,
"transcript": "ENST00000914110.1",
"protein_id": "ENSP00000584169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914110.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"hgvs_c": "n.153C>T",
"hgvs_p": null,
"transcript": "ENST00000484616.2",
"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": "retained_intron",
"feature": "ENST00000484616.2"
}
],
"gene_symbol": "RPS12",
"gene_hgnc_id": 10385,
"dbsnp": "rs142145207",
"frequency_reference_population": 0.000016110782,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.00000821043,
"gnomad_genomes_af": 0.0000919419,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5075610280036926,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.336,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4534,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.825,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001016.4",
"gene_symbol": "RPS12",
"hgnc_id": 10385,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Thr24Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}