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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: 1-26546876-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=26546876&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RPS6KA1",
"hgnc_id": 10430,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001006665.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 43,
"alphamissense_prediction": null,
"alphamissense_score": 0.0585,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012827634811401367,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 735,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 278,
"cds_end": null,
"cds_length": 2208,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002953.4",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374168.7",
"protein_coding": true,
"protein_id": "NP_002944.2",
"strand": true,
"transcript": "NM_002953.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 735,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 278,
"cds_end": null,
"cds_length": 2208,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374168.7",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002953.4",
"protein_coding": true,
"protein_id": "ENSP00000363283.2",
"strand": true,
"transcript": "ENST00000374168.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 744,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3118,
"cdna_start": 204,
"cds_end": null,
"cds_length": 2235,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001006665.2",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001006666.1",
"strand": true,
"transcript": "NM_001006665.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 744,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 194,
"cds_end": null,
"cds_length": 2235,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531382.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435412.1",
"strand": true,
"transcript": "ENST00000531382.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 742,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2229,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952528.1",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622587.1",
"strand": true,
"transcript": "ENST00000952528.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 734,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2205,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952527.1",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622586.1",
"strand": true,
"transcript": "ENST00000952527.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 724,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2175,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374166.8",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363281.4",
"strand": true,
"transcript": "ENST00000374166.8",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 719,
"aa_ref": "V",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3034,
"cdna_start": 120,
"cds_end": null,
"cds_length": 2160,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001330441.2",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317370.1",
"strand": true,
"transcript": "NM_001330441.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 719,
"aa_ref": "V",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 120,
"cds_end": null,
"cds_length": 2160,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530003.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432281.1",
"strand": true,
"transcript": "ENST00000530003.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 682,
"aa_ref": "V",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 152,
"cds_end": null,
"cds_length": 2049,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892920.1",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Val40Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562979.1",
"strand": true,
"transcript": "ENST00000892920.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 584,
"aa_ref": "V",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 204,
"cds_end": null,
"cds_length": 1755,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047427258.1",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Val49Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283214.1",
"strand": true,
"transcript": "XM_047427258.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526792.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.-159G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431651.1",
"strand": true,
"transcript": "ENST00000526792.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024448871.2",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.-159G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024304639.1",
"strand": true,
"transcript": "XM_024448871.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 544,
"cdna_start": null,
"cds_end": null,
"cds_length": 337,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529454.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "c.-51-313G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433039.1",
"strand": true,
"transcript": "ENST00000529454.5",
"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": 592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366866.8",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.174G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000355831.4",
"strand": true,
"transcript": "ENST00000366866.8",
"transcript_support_level": 4
},
{
"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": 3202,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000374163.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.145G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000363278.1",
"strand": true,
"transcript": "ENST00000374163.5",
"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": 560,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000524436.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.264G>A",
"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": "ENST00000524436.5",
"transcript_support_level": 4
},
{
"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": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000525525.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.*105G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434616.1",
"strand": true,
"transcript": "ENST00000525525.5",
"transcript_support_level": 5
},
{
"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": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000530607.1",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.201G>A",
"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": "ENST00000530607.1",
"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": 2089,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000531113.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.70G>A",
"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": "ENST00000531113.5",
"transcript_support_level": 2
},
{
"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": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000525525.5",
"gene_hgnc_id": 10430,
"gene_symbol": "RPS6KA1",
"hgvs_c": "n.*105G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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]
}