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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: 1-220212963-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220212963&ref=A&alt=G&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": "RAB3GAP2",
"hgnc_id": 17168,
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_012414.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9804,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Martsolf syndrome,Warburg micro syndrome 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8882143497467041,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1393,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7256,
"cdna_start": 426,
"cds_end": null,
"cds_length": 4182,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_012414.4",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358951.7",
"protein_coding": true,
"protein_id": "NP_036546.2",
"strand": false,
"transcript": "NM_012414.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1393,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7256,
"cdna_start": 426,
"cds_end": null,
"cds_length": 4182,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000358951.7",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012414.4",
"protein_coding": true,
"protein_id": "ENSP00000351832.2",
"strand": false,
"transcript": "ENST00000358951.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 470,
"cds_end": null,
"cds_length": 4257,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000692972.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510753.1",
"strand": false,
"transcript": "ENST00000692972.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "W",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5377,
"cdna_start": 389,
"cds_end": null,
"cds_length": 4194,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000691661.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.322T>C",
"hgvs_p": "p.Trp108Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510185.1",
"strand": false,
"transcript": "ENST00000691661.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1397,
"aa_ref": "W",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 428,
"cds_end": null,
"cds_length": 4194,
"cds_start": 322,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888373.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.322T>C",
"hgvs_p": "p.Trp108Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558432.1",
"strand": false,
"transcript": "ENST00000888373.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1393,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7330,
"cdna_start": 500,
"cds_end": null,
"cds_length": 4182,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888367.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558426.1",
"strand": false,
"transcript": "ENST00000888367.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1391,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5040,
"cdna_start": 375,
"cds_end": null,
"cds_length": 4176,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888371.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558430.1",
"strand": false,
"transcript": "ENST00000888371.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1385,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 394,
"cds_end": null,
"cds_length": 4158,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000947881.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617940.1",
"strand": false,
"transcript": "ENST00000947881.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "W",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 402,
"cds_end": null,
"cds_length": 4146,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000692813.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509080.1",
"strand": false,
"transcript": "ENST00000692813.1",
"transcript_support_level": null
},
{
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"aa_length": 1381,
"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5009,
"cdna_start": 394,
"cds_end": null,
"cds_length": 4146,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888372.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558431.1",
"strand": false,
"transcript": "ENST00000888372.1",
"transcript_support_level": null
},
{
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"aa_ref": "W",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 352,
"cds_end": null,
"cds_length": 4107,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 35,
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"feature": "ENST00000690824.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000510709.1",
"strand": false,
"transcript": "ENST00000690824.1",
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},
{
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"cdna_start": 436,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000888368.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558427.1",
"strand": false,
"transcript": "ENST00000888368.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000690315.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509834.1",
"strand": false,
"transcript": "ENST00000690315.1",
"transcript_support_level": null
},
{
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"aa_ref": "W",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 450,
"cds_end": null,
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"consequences": [
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],
"exon_count": 34,
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"feature": "ENST00000947882.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617941.1",
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"transcript": "ENST00000947882.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 34,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000691862.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509291.1",
"strand": false,
"transcript": "ENST00000691862.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 403,
"cds_end": null,
"cds_length": 4080,
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"consequences": [
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],
"exon_count": 34,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888369.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.310T>C",
"hgvs_p": "p.Trp104Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558428.1",
"strand": false,
"transcript": "ENST00000888369.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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],
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"feature": "ENST00000685664.1",
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"protein_coding": true,
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"transcript": "ENST00000685664.1",
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},
{
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],
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"exon_rank": 4,
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"feature": "ENST00000888370.1",
"gene_hgnc_id": 17168,
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"hgvs_c": "c.310T>C",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000888370.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000686381.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.46T>C",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509555.1",
"strand": false,
"transcript": "ENST00000686381.1",
"transcript_support_level": null
},
{
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"aa_ref": "W",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 345,
"cds_end": null,
"cds_length": 3918,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000687065.1",
"gene_hgnc_id": 17168,
"gene_symbol": "RAB3GAP2",
"hgvs_c": "c.46T>C",
"hgvs_p": "p.Trp16Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510408.1",
"strand": false,
"transcript": "ENST00000687065.1",
"transcript_support_level": null
},
{
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"aa_ref": "W",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5326,
"cdna_start": 338,
"cds_end": null,
"cds_length": 3918,
"cds_start": 46,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000687647.1",
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