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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: 14-73192721-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73192721&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PSEN1",
"hgnc_id": 9508,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"inheritance_mode": "AD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_000021.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "14",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " 3, familial,Acne inversa,Alzheimer disease 3,Frontotemporal dementia,Pick disease",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9722365140914917,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000021.4",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324501.10",
"protein_coding": true,
"protein_id": "NP_000012.1",
"strand": true,
"transcript": "NM_000021.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6018,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000324501.10",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000021.4",
"protein_coding": true,
"protein_id": "ENSP00000326366.5",
"strand": true,
"transcript": "ENST00000324501.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1392,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000357710.8",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350342.4",
"strand": true,
"transcript": "ENST00000357710.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 463,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1392,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000394164.5",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377719.1",
"strand": true,
"transcript": "ENST00000394164.5",
"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": 1254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000553855.5",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "n.626G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452242.1",
"strand": true,
"transcript": "ENST00000553855.5",
"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": 1752,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000555386.6",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "n.614G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450845.1",
"strand": true,
"transcript": "ENST00000555386.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 501,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2810,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1506,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894169.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564228.1",
"strand": true,
"transcript": "ENST00000894169.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 495,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1488,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894165.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Gly205Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564224.1",
"strand": true,
"transcript": "ENST00000894165.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 476,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6034,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1431,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700320.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514947.1",
"strand": true,
"transcript": "ENST00000700320.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000554131.6",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451915.2",
"strand": true,
"transcript": "ENST00000554131.6",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700267.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514903.1",
"strand": true,
"transcript": "ENST00000700267.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 902,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700268.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514904.1",
"strand": true,
"transcript": "ENST00000700268.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6116,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700269.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514905.1",
"strand": true,
"transcript": "ENST00000700269.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6089,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700306.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514933.1",
"strand": true,
"transcript": "ENST00000700306.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5975,
"cdna_start": 806,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700317.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514944.1",
"strand": true,
"transcript": "ENST00000700317.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6014,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700321.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514948.1",
"strand": true,
"transcript": "ENST00000700321.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6056,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700323.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514950.1",
"strand": true,
"transcript": "ENST00000700323.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6075,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000700375.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514966.1",
"strand": true,
"transcript": "ENST00000700375.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6396,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000700378.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514968.1",
"strand": true,
"transcript": "ENST00000700378.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894159.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Gly209Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564218.1",
"strand": true,
"transcript": "ENST00000894159.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 467,
"aa_ref": "G",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1404,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894162.1",
"gene_hgnc_id": 9508,
"gene_symbol": "PSEN1",
"hgvs_c": "c.626G>A",
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}