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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: 12-109783667-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109783667&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_021625.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0606,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12568286061286926,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_021625.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2650,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000261740.7",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000418703.7",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2514,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000536838.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2468A>C",
"hgvs_p": "p.Gln823Pro",
"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": "P",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Q",
"aa_start": 810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2429,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000541794.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2429A>C",
"hgvs_p": "p.Gln810Pro",
"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": "P",
"aa_end": null,
"aa_length": 811,
"aa_ref": "Q",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000537083.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2390A>C",
"hgvs_p": "p.Gln797Pro",
"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": "P",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Q",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000544971.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2249A>C",
"hgvs_p": "p.Gln750Pro",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000538125.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "n.*953A>C",
"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": 16,
"exon_rank_end": null,
"feature": "ENST00000538125.5",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "n.*953A>C",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675670.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2878,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000909280.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": 2691,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000909281.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001177431.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2468A>C",
"hgvs_p": "p.Gln823Pro",
"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": "P",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Q",
"aa_start": 810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2429,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001177428.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2429A>C",
"hgvs_p": "p.Gln810Pro",
"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": "P",
"aa_end": null,
"aa_length": 811,
"aa_ref": "Q",
"aa_start": 797,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 2436,
"cds_start": 2390,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_147204.2",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2390A>C",
"hgvs_p": "p.Gln797Pro",
"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": "P",
"aa_end": null,
"aa_length": 764,
"aa_ref": "Q",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001177433.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2249A>C",
"hgvs_p": "p.Gln750Pro",
"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": "P",
"aa_end": null,
"aa_length": 922,
"aa_ref": "Q",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 3761,
"cds_end": null,
"cds_length": 2769,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_011538630.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2723A>C",
"hgvs_p": "p.Gln908Pro",
"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": "P",
"aa_end": null,
"aa_length": 875,
"aa_ref": "Q",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 3620,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2582,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011538631.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2582A>C",
"hgvs_p": "p.Gln861Pro",
"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": "P",
"aa_end": null,
"aa_length": 871,
"aa_ref": "Q",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 3394,
"cds_end": null,
"cds_length": 2616,
"cds_start": 2570,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_017019774.2",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2570A>C",
"hgvs_p": "p.Gln857Pro",
"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": "P",
"aa_end": null,
"aa_length": 862,
"aa_ref": "Q",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 3581,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2543,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_011538632.3",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
"hgvs_c": "c.2543A>C",
"hgvs_p": "p.Gln848Pro",
"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": "P",
"aa_end": null,
"aa_length": 824,
"aa_ref": "Q",
"aa_start": 810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2429,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047429293.1",
"gene_hgnc_id": 18083,
"gene_symbol": "TRPV4",
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