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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: 12-57476902-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57476902&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARHGAP9",
"hgnc_id": 14130,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001319850.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MARS1",
"hgnc_id": 6898,
"hgvs_c": "n.199-338C>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000549133.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.0769,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16282689571380615,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 2196,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_032496.4",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393791.8",
"protein_coding": true,
"protein_id": "NP_115885.2",
"strand": false,
"transcript": "NM_032496.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2599,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 2196,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393791.8",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032496.4",
"protein_coding": true,
"protein_id": "ENSP00000377380.3",
"strand": false,
"transcript": "ENST00000393791.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 750,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 2253,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393797.7",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377386.3",
"strand": false,
"transcript": "ENST00000393797.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 547,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1644,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000430041.6",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397950.2",
"strand": false,
"transcript": "ENST00000430041.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 750,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2917,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2253,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001319850.2",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306779.2",
"strand": false,
"transcript": "NM_001319850.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 750,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2713,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 2253,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906774.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576833.1",
"strand": false,
"transcript": "ENST00000906774.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 2196,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000906773.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576832.1",
"strand": false,
"transcript": "ENST00000906773.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 2196,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000906775.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576834.1",
"strand": false,
"transcript": "ENST00000906775.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2848,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 2196,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948684.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618743.1",
"strand": false,
"transcript": "ENST00000948684.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 730,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2193,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906772.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576831.1",
"strand": false,
"transcript": "ENST00000906772.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 657,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1974,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000550288.6",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473445.2",
"strand": false,
"transcript": "ENST00000550288.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
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"aa_length": 640,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1923,
"cds_start": 932,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 5,
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"feature": "NM_001080157.2",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073626.1",
"strand": false,
"transcript": "NM_001080157.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1923,
"cds_start": 932,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000424809.6",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394307.2",
"strand": false,
"transcript": "ENST00000424809.6",
"transcript_support_level": 2
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1701,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001319852.2",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306781.1",
"strand": false,
"transcript": "NM_001319852.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 481,
"cds_end": null,
"cds_length": 1644,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001080156.3",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073625.1",
"strand": false,
"transcript": "NM_001080156.3",
"transcript_support_level": null
},
{
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"aa_length": 547,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1644,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367426.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354355.1",
"strand": false,
"transcript": "NM_001367426.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": 380,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367422.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001354351.1",
"strand": false,
"transcript": "NM_001367422.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 477,
"cds_end": null,
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"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001367424.1",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354353.1",
"strand": false,
"transcript": "NM_001367424.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": 457,
"cds_end": null,
"cds_length": 890,
"cds_start": 380,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000548139.5",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.380G>A",
"hgvs_p": "p.Arg127Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449829.1",
"strand": false,
"transcript": "ENST00000548139.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": 502,
"cds_end": null,
"cds_length": 522,
"cds_start": 491,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000551452.5",
"gene_hgnc_id": 14130,
"gene_symbol": "ARHGAP9",
"hgvs_c": "c.491G>A",
"hgvs_p": "p.Arg164Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446932.1",
"strand": false,
"transcript": "ENST00000551452.5",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
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"aa_length": 130,
"aa_ref": "R",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 624,
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