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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: 14-24118456-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24118456&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DCAF11",
"hgnc_id": 20258,
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_025230.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9549,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.845085620880127,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_025230.5",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000446197.8",
"protein_coding": true,
"protein_id": "NP_079506.3",
"strand": true,
"transcript": "NM_025230.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4304,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000446197.8",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025230.5",
"protein_coding": true,
"protein_id": "ENSP00000415556.4",
"strand": true,
"transcript": "ENST00000446197.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000559115.5",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452898.1",
"strand": true,
"transcript": "ENST00000559115.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 446,
"aa_ref": "D",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 802,
"cds_end": null,
"cds_length": 1341,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396936.5",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.346G>T",
"hgvs_p": "p.Asp116Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380142.1",
"strand": true,
"transcript": "ENST00000396936.5",
"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": 2570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000326009.9",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "n.*407G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000323680.5",
"strand": true,
"transcript": "ENST00000326009.9",
"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": 4202,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557802.5",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "n.*342G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453462.1",
"strand": true,
"transcript": "ENST00000557802.5",
"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": 2570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000326009.9",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "n.*407G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000323680.5",
"strand": true,
"transcript": "ENST00000326009.9",
"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": 4202,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557802.5",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "n.*342G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453462.1",
"strand": true,
"transcript": "ENST00000557802.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3774,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001163484.2",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001156956.1",
"strand": true,
"transcript": "NM_001163484.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905287.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575346.1",
"strand": true,
"transcript": "ENST00000905287.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4187,
"cdna_start": 887,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905288.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575347.1",
"strand": true,
"transcript": "ENST00000905288.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3818,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905289.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575348.1",
"strand": true,
"transcript": "ENST00000905289.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000905292.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575351.1",
"strand": true,
"transcript": "ENST00000905292.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 798,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905293.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575352.1",
"strand": true,
"transcript": "ENST00000905293.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905294.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575353.1",
"strand": true,
"transcript": "ENST00000905294.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905297.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575356.1",
"strand": true,
"transcript": "ENST00000905297.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000905298.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575357.1",
"strand": true,
"transcript": "ENST00000905298.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933294.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603353.1",
"strand": true,
"transcript": "ENST00000933294.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933295.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603354.1",
"strand": true,
"transcript": "ENST00000933295.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 546,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2542,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1641,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942878.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Asp216Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612937.1",
"strand": true,
"transcript": "ENST00000942878.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 536,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1611,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942879.1",
"gene_hgnc_id": 20258,
"gene_symbol": "DCAF11",
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Asp206Tyr",
"intron_rank": null,
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