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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: 2-164508768-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164508768&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 164508768,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004490.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "NM_004490.3",
"protein_id": "NP_004481.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 540,
"cds_start": 901,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "ENST00000263915.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004490.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000263915.8",
"protein_id": "ENSP00000263915.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 540,
"cds_start": 901,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": "NM_004490.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263915.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Pro256Ala",
"transcript": "ENST00000446413.6",
"protein_id": "ENSP00000416786.2",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 414,
"cds_start": 766,
"cds_end": null,
"cds_length": 1247,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446413.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000943514.1",
"protein_id": "ENSP00000613573.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 593,
"cds_start": 901,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943514.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.1048C>G",
"hgvs_p": "p.Pro350Ala",
"transcript": "ENST00000943511.1",
"protein_id": "ENSP00000613570.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 589,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943511.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000894024.1",
"protein_id": "ENSP00000564083.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 540,
"cds_start": 901,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894024.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000911822.1",
"protein_id": "ENSP00000581881.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 522,
"cds_start": 901,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911822.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.826C>G",
"hgvs_p": "p.Pro276Ala",
"transcript": "ENST00000894027.1",
"protein_id": "ENSP00000564086.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 515,
"cds_start": 826,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894027.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000894025.1",
"protein_id": "ENSP00000564084.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 513,
"cds_start": 901,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894025.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000894026.1",
"protein_id": "ENSP00000564085.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 508,
"cds_start": 901,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894026.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.766C>G",
"hgvs_p": "p.Pro256Ala",
"transcript": "ENST00000943512.1",
"protein_id": "ENSP00000613571.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 495,
"cds_start": 766,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943512.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "ENST00000911821.1",
"protein_id": "ENSP00000581880.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 481,
"cds_start": 901,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911821.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "NM_001303422.2",
"protein_id": "NP_001290351.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 453,
"cds_start": 640,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303422.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.640C>G",
"hgvs_p": "p.Pro214Ala",
"transcript": "ENST00000696453.2",
"protein_id": "ENSP00000512640.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 453,
"cds_start": 640,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696453.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Pro101Ala",
"transcript": "XM_047444013.1",
"protein_id": "XP_047299969.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 340,
"cds_start": 301,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444013.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "XM_047444014.1",
"protein_id": "XP_047299970.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 336,
"cds_start": 901,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444014.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala",
"transcript": "XM_011511022.2",
"protein_id": "XP_011509324.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 312,
"cds_start": 901,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511022.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "c.817-6433C>G",
"hgvs_p": null,
"transcript": "ENST00000943513.1",
"protein_id": "ENSP00000613572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.879C>G",
"hgvs_p": null,
"transcript": "ENST00000469573.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.984C>G",
"hgvs_p": null,
"transcript": "ENST00000488342.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1983,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488342.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"hgvs_c": "n.1074C>G",
"hgvs_p": null,
"transcript": "XR_427085.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_427085.4"
}
],
"gene_symbol": "GRB14",
"gene_hgnc_id": 4565,
"dbsnp": "rs138627056",
"frequency_reference_population": 0.00012793817,
"hom_count_reference_population": 2,
"allele_count_reference_population": 203,
"gnomad_exomes_af": 0.00012823,
"gnomad_genomes_af": 0.000125178,
"gnomad_exomes_ac": 184,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7286906242370605,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.66,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.398,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.103,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004490.3",
"gene_symbol": "GRB14",
"hgnc_id": 4565,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.901C>G",
"hgvs_p": "p.Pro301Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}