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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: 12-25227275-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25227275&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25227275,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_033360.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "NM_033360.4",
"protein_id": "NP_203524.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 189,
"cds_start": 249,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000256078.10",
"biotype": "protein_coding",
"feature": "NM_033360.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000256078.10",
"protein_id": "ENSP00000256078.5",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 189,
"cds_start": 249,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_033360.4",
"biotype": "protein_coding",
"feature": "ENST00000256078.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "NM_004985.5",
"protein_id": "NP_004976.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311936.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004985.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000311936.8",
"protein_id": "ENSP00000308495.3",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004985.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311936.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "NM_001369786.1",
"protein_id": "NP_001356715.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 189,
"cds_start": 249,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369786.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "NM_001369787.1",
"protein_id": "NP_001356716.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369787.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000685328.1",
"protein_id": "ENSP00000508921.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685328.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000688940.1",
"protein_id": "ENSP00000509238.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688940.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000894155.1",
"protein_id": "ENSP00000564214.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 249,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894155.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Ala58Ala",
"transcript": "ENST00000693229.1",
"protein_id": "ENSP00000509223.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 163,
"cds_start": 174,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693229.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "ENST00000940422.1",
"protein_id": "ENSP00000610481.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 162,
"cds_start": 249,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940422.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.51C>T",
"hgvs_p": "p.Ala17Ala",
"transcript": "ENST00000692768.1",
"protein_id": "ENSP00000510254.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 122,
"cds_start": 51,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692768.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala",
"transcript": "XM_047428826.1",
"protein_id": "XP_047284782.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 227,
"cds_start": 249,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428826.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.112-17364C>T",
"hgvs_p": null,
"transcript": "ENST00000557334.6",
"protein_id": "ENSP00000452512.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557334.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*220C>T",
"hgvs_p": null,
"transcript": "ENST00000686877.1",
"protein_id": "ENSP00000510431.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686877.1"
},
{
"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": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.723C>T",
"hgvs_p": null,
"transcript": "ENST00000688228.1",
"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": "retained_intron",
"feature": "ENST00000688228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*210C>T",
"hgvs_p": null,
"transcript": "ENST00000690804.1",
"protein_id": "ENSP00000508568.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*220C>T",
"hgvs_p": null,
"transcript": "ENST00000686877.1",
"protein_id": "ENSP00000510431.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686877.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*210C>T",
"hgvs_p": null,
"transcript": "ENST00000690804.1",
"protein_id": "ENSP00000508568.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.112-1502C>T",
"hgvs_p": null,
"transcript": "ENST00000687356.1",
"protein_id": "ENSP00000510511.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687356.1"
}
],
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"dbsnp": "rs751117590",
"frequency_reference_population": 0.000033468943,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000348993,
"gnomad_genomes_af": 0.0000197254,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.943,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_033360.4",
"gene_symbol": "KRAS",
"hgnc_id": 6407,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.249C>T",
"hgvs_p": "p.Ala83Ala"
}
],
"clinvar_disease": "Cardiovascular phenotype,KRAS-related disorder,RASopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "not provided|RASopathy|Cardiovascular phenotype|KRAS-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}