← Back to variant description
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: 21-39499871-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39499871&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39499871,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_007341.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"transcript": "NM_007341.3",
"protein_id": "NP_031367.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 176,
"cds_start": 361,
"cds_end": null,
"cds_length": 531,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "ENST00000333634.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser",
"transcript": "ENST00000333634.10",
"protein_id": "ENSP00000332513.5",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 176,
"cds_start": 361,
"cds_end": null,
"cds_length": 531,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "NM_007341.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Ser",
"transcript": "ENST00000647779.1",
"protein_id": "ENSP00000497977.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 273,
"cds_start": 652,
"cds_end": null,
"cds_length": 822,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Ser",
"transcript": "NM_001317744.2",
"protein_id": "NP_001304673.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 273,
"cds_start": 652,
"cds_end": null,
"cds_length": 822,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Ser",
"transcript": "NM_001350300.2",
"protein_id": "NP_001337229.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 255,
"cds_start": 652,
"cds_end": null,
"cds_length": 768,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "NM_001001713.1",
"protein_id": "NP_001001713.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 217,
"cds_end": null,
"cds_length": 387,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "NM_001317742.1",
"protein_id": "NP_001304671.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 217,
"cds_end": null,
"cds_length": 387,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000380631.5",
"protein_id": "ENSP00000370005.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 217,
"cds_end": null,
"cds_length": 387,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000380634.5",
"protein_id": "ENSP00000370008.1",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 217,
"cds_end": null,
"cds_length": 387,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000380637.7",
"protein_id": "ENSP00000370011.3",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 128,
"cds_start": 217,
"cds_end": null,
"cds_length": 387,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000440288.6",
"protein_id": "ENSP00000401572.2",
"transcript_support_level": 5,
"aa_start": 73,
"aa_end": null,
"aa_length": 105,
"cds_start": 217,
"cds_end": null,
"cds_length": 318,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.130G>A",
"hgvs_p": "p.Gly44Ser",
"transcript": "ENST00000698170.1",
"protein_id": "ENSP00000513592.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 99,
"cds_start": 130,
"cds_end": null,
"cds_length": 300,
"cdna_start": 142,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.76G>A",
"hgvs_p": "p.Gly26Ser",
"transcript": "ENST00000423596.5",
"protein_id": "ENSP00000413981.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 81,
"cds_start": 76,
"cds_end": null,
"cds_length": 246,
"cdna_start": 76,
"cdna_end": null,
"cdna_length": 246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.49G>A",
"hgvs_p": "p.Gly17Ser",
"transcript": "ENST00000447939.1",
"protein_id": "ENSP00000403115.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 54,
"cds_start": 49,
"cds_end": null,
"cds_length": 165,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "n.*929G>A",
"hgvs_p": null,
"transcript": "ENST00000648253.1",
"protein_id": "ENSP00000497295.1",
"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": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "n.1510G>A",
"hgvs_p": null,
"transcript": "NR_146618.2",
"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": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "n.*929G>A",
"hgvs_p": null,
"transcript": "ENST00000648253.1",
"protein_id": "ENSP00000497295.1",
"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": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.313-9127G>A",
"hgvs_p": null,
"transcript": "NM_001317740.2",
"protein_id": "NP_001304669.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": -4,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.286-9127G>A",
"hgvs_p": null,
"transcript": "ENST00000452550.5",
"protein_id": "ENSP00000405675.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.169-9127G>A",
"hgvs_p": null,
"transcript": "NM_001317741.1",
"protein_id": "NP_001304670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.169-9127G>A",
"hgvs_p": null,
"transcript": "ENST00000458295.5",
"protein_id": "ENSP00000404980.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": -4,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"dbsnp": "rs147131543",
"frequency_reference_population": 0.0000013682193,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136822,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05737406015396118,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.909,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007341.3",
"gene_symbol": "SH3BGR",
"hgnc_id": 10822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Gly121Ser"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647779.1",
"gene_symbol": "GET1-SH3BGR",
"hgnc_id": 54635,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Gly218Ser"
}
],
"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
}