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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: 12-109786726-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109786726&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_021625.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 99,
"alphamissense_prediction": null,
"alphamissense_score": 0.142,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "12",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " Kozlowski type, autosomal dominant 8, distal hereditary motor,Brachyrachia (short spine dysplasia),Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2C,Inborn genetic diseases,Metatropic dysplasia,Neuronopathy,Scapuloperoneal spinal muscular atrophy,Spondylometaphyseal dysplasia",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16547879576683044,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_021625.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261740.7",
"protein_coding": true,
"protein_id": "NP_067638.3",
"strand": false,
"transcript": "NM_021625.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000261740.7",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021625.5",
"protein_coding": true,
"protein_id": "ENSP00000261740.2",
"strand": false,
"transcript": "ENST00000261740.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2415,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000418703.7",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406191.2",
"strand": false,
"transcript": "ENST00000418703.7",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 837,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000536838.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Arg740Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444336.1",
"strand": false,
"transcript": "ENST00000536838.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 2179,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2179,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000541794.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Arg727Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442167.1",
"strand": false,
"transcript": "ENST00000541794.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 2140,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000537083.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2140C>T",
"hgvs_p": "p.Arg714Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442738.1",
"strand": false,
"transcript": "ENST00000537083.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1999,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000544971.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443611.1",
"strand": false,
"transcript": "ENST00000544971.5",
"transcript_support_level": 1
},
{
"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": 2804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000538125.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "n.*703C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437449.1",
"strand": false,
"transcript": "ENST00000538125.5",
"transcript_support_level": 1
},
{
"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": 2804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000538125.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "n.*703C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437449.1",
"strand": false,
"transcript": "ENST00000538125.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2769,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675670.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502135.1",
"strand": false,
"transcript": "ENST00000675670.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000909280.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579339.1",
"strand": false,
"transcript": "ENST00000909280.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 2441,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000909281.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579340.1",
"strand": false,
"transcript": "ENST00000909281.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 837,
"aa_ref": "R",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001177431.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2218C>T",
"hgvs_p": "p.Arg740Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170902.1",
"strand": false,
"transcript": "NM_001177431.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2179,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001177428.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Arg727Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170899.1",
"strand": false,
"transcript": "NM_001177428.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 811,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 2171,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_147204.2",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2140C>T",
"hgvs_p": "p.Arg714Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671737.1",
"strand": false,
"transcript": "NM_147204.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2030,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1999,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001177433.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001170904.1",
"strand": false,
"transcript": "NM_001177433.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 922,
"aa_ref": "R",
"aa_start": 825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 3511,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2473,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011538630.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2473C>T",
"hgvs_p": "p.Arg825Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536932.2",
"strand": false,
"transcript": "XM_011538630.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 875,
"aa_ref": "R",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011538631.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2332C>T",
"hgvs_p": "p.Arg778Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536933.2",
"strand": false,
"transcript": "XM_011538631.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 871,
"aa_ref": "R",
"aa_start": 774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2320,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_017019774.2",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2320C>T",
"hgvs_p": "p.Arg774Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875263.1",
"strand": false,
"transcript": "XM_017019774.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 862,
"aa_ref": "R",
"aa_start": 765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 3331,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2293,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011538632.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536934.2",
"strand": false,
"transcript": "XM_011538632.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 824,
"aa_ref": "R",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2179,
"consequences": [
"missense_variant"
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