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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: 10-74134108-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74134108&ref=G&alt=A&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": "AP3M1",
"hgnc_id": 569,
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_012095.6",
"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": 0.9882,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.937995195388794,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012095.6",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355264.9",
"protein_coding": true,
"protein_id": "NP_036227.1",
"strand": false,
"transcript": "NM_012095.6",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000355264.9",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012095.6",
"protein_coding": true,
"protein_id": "ENSP00000347408.4",
"strand": false,
"transcript": "ENST00000355264.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2320,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000372745.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361831.1",
"strand": false,
"transcript": "ENST00000372745.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001320263.2",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307192.1",
"strand": false,
"transcript": "NM_001320263.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5309,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001320264.2",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307193.1",
"strand": false,
"transcript": "NM_001320264.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5015,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_207012.4",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996895.1",
"strand": false,
"transcript": "NM_207012.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5048,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867215.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537274.1",
"strand": false,
"transcript": "ENST00000867215.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867216.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537275.1",
"strand": false,
"transcript": "ENST00000867216.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3513,
"cdna_start": 711,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867217.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537276.1",
"strand": false,
"transcript": "ENST00000867217.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 874,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867218.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537277.1",
"strand": false,
"transcript": "ENST00000867218.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867219.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537278.1",
"strand": false,
"transcript": "ENST00000867219.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867220.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537279.1",
"strand": false,
"transcript": "ENST00000867220.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867221.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537280.1",
"strand": false,
"transcript": "ENST00000867221.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867222.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537281.1",
"strand": false,
"transcript": "ENST00000867222.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867223.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537282.1",
"strand": false,
"transcript": "ENST00000867223.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5152,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920397.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590456.1",
"strand": false,
"transcript": "ENST00000920397.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920399.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590458.1",
"strand": false,
"transcript": "ENST00000920399.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 598,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920401.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590460.1",
"strand": false,
"transcript": "ENST00000920401.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3966,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920402.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590461.1",
"strand": false,
"transcript": "ENST00000920402.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920403.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590462.1",
"strand": false,
"transcript": "ENST00000920403.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 418,
"aa_ref": "R",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1257,
"cds_start": 502,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000920404.1",
"gene_hgnc_id": 569,
"gene_symbol": "AP3M1",
"hgvs_c": "c.502C>T",
"hgvs_p": "p.Arg168Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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