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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: 19-38706056-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38706056&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTN4",
"hgnc_id": 166,
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001440296.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000298338",
"hgnc_id": null,
"hgvs_c": "n.201-3892T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000754980.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107985291",
"hgnc_id": null,
"hgvs_c": "n.170-3892T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_001753937.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5178,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Focal segmental glomerulosclerosis 1,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.884401798248291,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 911,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2736,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_004924.6",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252699.7",
"protein_coding": true,
"protein_id": "NP_004915.2",
"strand": true,
"transcript": "NM_004924.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 911,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2736,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000252699.7",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004924.6",
"protein_coding": true,
"protein_id": "ENSP00000252699.2",
"strand": true,
"transcript": "ENST00000252699.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 911,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2736,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000424234.7",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411187.4",
"strand": true,
"transcript": "ENST00000424234.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": null,
"cds_end": null,
"cds_length": 2079,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000390009.7",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.163-8413A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439497.1",
"strand": true,
"transcript": "ENST00000390009.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588618.5",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "n.594A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588618.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 962,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2889,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871334.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541393.1",
"strand": true,
"transcript": "ENST00000871334.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 951,
"aa_ref": "K",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 705,
"cds_end": null,
"cds_length": 2856,
"cds_start": 617,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000871336.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.617A>G",
"hgvs_p": "p.Lys206Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541395.1",
"strand": true,
"transcript": "ENST00000871336.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 936,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 589,
"cds_end": null,
"cds_length": 2811,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871329.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541388.1",
"strand": true,
"transcript": "ENST00000871329.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 936,
"aa_ref": "K",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 635,
"cds_end": null,
"cds_length": 2811,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871331.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.572A>G",
"hgvs_p": "p.Lys191Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541390.1",
"strand": true,
"transcript": "ENST00000871331.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 933,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2802,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440296.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427225.1",
"strand": true,
"transcript": "NM_001440296.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 933,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2802,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440300.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427229.1",
"strand": true,
"transcript": "NM_001440300.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 933,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2802,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871326.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541385.1",
"strand": true,
"transcript": "ENST00000871326.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 933,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 627,
"cds_end": null,
"cds_length": 2802,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924369.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594428.1",
"strand": true,
"transcript": "ENST00000924369.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 925,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 556,
"cds_end": null,
"cds_length": 2778,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871335.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541394.1",
"strand": true,
"transcript": "ENST00000871335.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 911,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2736,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001411143.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398072.1",
"strand": true,
"transcript": "NM_001411143.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 910,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2733,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924368.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594427.1",
"strand": true,
"transcript": "ENST00000924368.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 909,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3578,
"cdna_start": 589,
"cds_end": null,
"cds_length": 2730,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871327.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541386.1",
"strand": true,
"transcript": "ENST00000871327.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 908,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 560,
"cds_end": null,
"cds_length": 2727,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871325.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541384.1",
"strand": true,
"transcript": "ENST00000871325.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 908,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 589,
"cds_end": null,
"cds_length": 2727,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000871328.1",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541387.1",
"strand": true,
"transcript": "ENST00000871328.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 906,
"aa_ref": "K",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2721,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322033.2",
"gene_hgnc_id": 166,
"gene_symbol": "ACTN4",
"hgvs_c": "c.497A>G",
"hgvs_p": "p.Lys166Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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