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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: 1-220190497-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=220190497&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 220190497,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000358951.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr",
"transcript": "NM_012414.4",
"protein_id": "NP_036546.2",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1393,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "ENST00000358951.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr",
"transcript": "ENST00000358951.7",
"protein_id": "ENSP00000351832.2",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 1393,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 7256,
"mane_select": "NM_012414.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Ile529Thr",
"transcript": "ENST00000692972.1",
"protein_id": "ENSP00000510753.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1418,
"cds_start": 1586,
"cds_end": null,
"cds_length": 4257,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1523T>C",
"hgvs_p": "p.Ile508Thr",
"transcript": "ENST00000691661.1",
"protein_id": "ENSP00000510185.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 1397,
"cds_start": 1523,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr",
"transcript": "ENST00000692813.1",
"protein_id": "ENSP00000509080.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1381,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr",
"transcript": "ENST00000690824.1",
"protein_id": "ENSP00000510709.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1368,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4107,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1412T>C",
"hgvs_p": "p.Ile471Thr",
"transcript": "ENST00000690315.1",
"protein_id": "ENSP00000509834.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 1360,
"cds_start": 1412,
"cds_end": null,
"cds_length": 4083,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1409T>C",
"hgvs_p": "p.Ile470Thr",
"transcript": "ENST00000691862.1",
"protein_id": "ENSP00000509291.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 1359,
"cds_start": 1409,
"cds_end": null,
"cds_length": 4080,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 5263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr",
"transcript": "ENST00000685664.1",
"protein_id": "ENSP00000509121.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1358,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4077,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Ile416Thr",
"transcript": "ENST00000686381.1",
"protein_id": "ENSP00000509555.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1247,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 5286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Ile416Thr",
"transcript": "ENST00000687065.1",
"protein_id": "ENSP00000510408.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1247,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "c.1247T>C",
"hgvs_p": "p.Ile416Thr",
"transcript": "ENST00000687647.1",
"protein_id": "ENSP00000509205.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 1305,
"cds_start": 1247,
"cds_end": null,
"cds_length": 3918,
"cdna_start": 1539,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1511T>C",
"hgvs_p": null,
"transcript": "ENST00000685286.1",
"protein_id": "ENSP00000509457.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1617T>C",
"hgvs_p": null,
"transcript": "ENST00000687394.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1926T>C",
"hgvs_p": null,
"transcript": "ENST00000688035.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1850T>C",
"hgvs_p": null,
"transcript": "ENST00000690373.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1541T>C",
"hgvs_p": null,
"transcript": "ENST00000690379.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.721T>C",
"hgvs_p": null,
"transcript": "ENST00000693454.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.1604T>C",
"hgvs_p": null,
"transcript": "ENST00000693602.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"hgvs_c": "n.292-72T>C",
"hgvs_p": null,
"transcript": "ENST00000478976.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB3GAP2",
"gene_hgnc_id": 17168,
"dbsnp": "rs1553276414",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.401275634765625,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.8852,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.85,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000358951.7",
"gene_symbol": "RAB3GAP2",
"hgnc_id": 17168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1511T>C",
"hgvs_p": "p.Ile504Thr"
}
],
"clinvar_disease": "Martsolf syndrome,Warburg micro syndrome 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Warburg micro syndrome 2;Martsolf syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}