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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: 18-23026176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23026176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBBP8",
"hgnc_id": 9891,
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_002894.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1",
"acmg_score": -6,
"allele_count_reference_population": 245,
"alphamissense_prediction": null,
"alphamissense_score": 0.6682,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20688408613204956,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_002894.3",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000327155.10",
"protein_coding": true,
"protein_id": "NP_002885.1",
"strand": true,
"transcript": "NM_002894.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000327155.10",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002894.3",
"protein_coding": true,
"protein_id": "ENSP00000323050.5",
"strand": true,
"transcript": "ENST00000327155.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000360790.9",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2645G>A",
"hgvs_p": "p.Arg882His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354024.5",
"strand": true,
"transcript": "ENST00000360790.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2981,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000399722.6",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382628.2",
"strand": true,
"transcript": "ENST00000399722.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 867,
"aa_ref": "V",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 2950,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000399725.6",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2533G>A",
"hgvs_p": "p.Val845Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382630.2",
"strand": true,
"transcript": "ENST00000399725.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 902,
"aa_ref": "R",
"aa_start": 882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 2709,
"cds_start": 2645,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000921842.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2645G>A",
"hgvs_p": "p.Arg882His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591901.1",
"strand": true,
"transcript": "ENST00000921842.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3250,
"cdna_start": 2940,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_203291.2",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_976036.1",
"strand": true,
"transcript": "NM_203291.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": 2997,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000873911.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543970.1",
"strand": true,
"transcript": "ENST00000873911.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 3026,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000873912.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543971.1",
"strand": true,
"transcript": "ENST00000873912.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3215,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000873913.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543972.1",
"strand": true,
"transcript": "ENST00000873913.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000873914.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543973.1",
"strand": true,
"transcript": "ENST00000873914.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 3045,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000873915.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543974.1",
"strand": true,
"transcript": "ENST00000873915.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 3265,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000921841.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591900.1",
"strand": true,
"transcript": "ENST00000921841.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 867,
"aa_ref": "V",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 2924,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2533,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_203292.2",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2533G>A",
"hgvs_p": "p.Val845Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_976037.1",
"strand": true,
"transcript": "NM_203292.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "V",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 904,
"cds_end": null,
"cds_length": 975,
"cds_start": 904,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000583057.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Val302Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464691.1",
"strand": true,
"transcript": "ENST00000583057.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 75,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 617,
"cdna_start": 305,
"cds_end": null,
"cds_length": 228,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000581687.1",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463544.1",
"strand": true,
"transcript": "ENST00000581687.1",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_006722519.3",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722582.1",
"strand": true,
"transcript": "XM_006722519.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3261,
"cdna_start": 2951,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_006722520.3",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722583.1",
"strand": true,
"transcript": "XM_006722520.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 3560,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_006722521.3",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722584.1",
"strand": true,
"transcript": "XM_006722521.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 2962,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011526132.3",
"gene_hgnc_id": 9891,
"gene_symbol": "RBBP8",
"hgvs_c": "c.2630G>A",
"hgvs_p": "p.Arg877His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524434.1",
"strand": true,
"transcript": "XM_011526132.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 897,
"aa_ref": "R",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": 3126,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2630,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047437727.1",
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}