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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: 21-39462541-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39462541&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39462541,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007341.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "NM_007341.3",
"protein_id": "NP_031367.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 176,
"cds_start": 212,
"cds_end": null,
"cds_length": 531,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "ENST00000333634.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "ENST00000333634.10",
"protein_id": "ENSP00000332513.5",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 176,
"cds_start": 212,
"cds_end": null,
"cds_length": 531,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1109,
"mane_select": "NM_007341.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "ENST00000647779.1",
"protein_id": "ENSP00000497977.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 273,
"cds_start": 503,
"cds_end": null,
"cds_length": 822,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "NM_001317744.2",
"protein_id": "NP_001304673.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 273,
"cds_start": 503,
"cds_end": null,
"cds_length": 822,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"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": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser",
"transcript": "NM_001350300.2",
"protein_id": "NP_001337229.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 255,
"cds_start": 503,
"cds_end": null,
"cds_length": 768,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser",
"transcript": "NM_001317740.2",
"protein_id": "NP_001304669.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 145,
"cds_start": 212,
"cds_end": null,
"cds_length": 438,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Asn62Ser",
"transcript": "ENST00000452550.5",
"protein_id": "ENSP00000405675.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 136,
"cds_start": 185,
"cds_end": null,
"cds_length": 411,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "NM_001001713.1",
"protein_id": "NP_001001713.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 128,
"cds_start": 68,
"cds_end": null,
"cds_length": 387,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "NM_001317742.1",
"protein_id": "NP_001304671.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 128,
"cds_start": 68,
"cds_end": null,
"cds_length": 387,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "ENST00000380631.5",
"protein_id": "ENSP00000370005.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 128,
"cds_start": 68,
"cds_end": null,
"cds_length": 387,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "ENST00000380634.5",
"protein_id": "ENSP00000370008.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 128,
"cds_start": 68,
"cds_end": null,
"cds_length": 387,
"cdna_start": 195,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "ENST00000380637.7",
"protein_id": "ENSP00000370011.3",
"transcript_support_level": 3,
"aa_start": 23,
"aa_end": null,
"aa_length": 128,
"cds_start": 68,
"cds_end": null,
"cds_length": 387,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "ENST00000440288.6",
"protein_id": "ENSP00000401572.2",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 105,
"cds_start": 68,
"cds_end": null,
"cds_length": 318,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "NM_001317741.1",
"protein_id": "NP_001304670.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 97,
"cds_start": 68,
"cds_end": null,
"cds_length": 294,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Asn23Ser",
"transcript": "ENST00000458295.5",
"protein_id": "ENSP00000404980.1",
"transcript_support_level": 3,
"aa_start": 23,
"aa_end": null,
"aa_length": 97,
"cds_start": 68,
"cds_end": null,
"cds_length": 294,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"hgvs_c": "c.8A>G",
"hgvs_p": "p.Asn3Ser",
"transcript": "ENST00000423596.5",
"protein_id": "ENSP00000413981.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 81,
"cds_start": 8,
"cds_end": null,
"cds_length": 246,
"cdna_start": 8,
"cdna_end": null,
"cdna_length": 246,
"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": 9,
"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.*780A>G",
"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": 9,
"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.1361A>G",
"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": 9,
"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.*780A>G",
"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
}
],
"gene_symbol": "SH3BGR",
"gene_hgnc_id": 10822,
"dbsnp": "rs201912802",
"frequency_reference_population": 0.00005127038,
"hom_count_reference_population": 0,
"allele_count_reference_population": 82,
"gnomad_exomes_af": 0.0000483739,
"gnomad_genomes_af": 0.0000787898,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4480043649673462,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.794,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007341.3",
"gene_symbol": "SH3BGR",
"hgnc_id": 10822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Asn71Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000647779.1",
"gene_symbol": "GET1-SH3BGR",
"hgnc_id": 54635,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.503A>G",
"hgvs_p": "p.Asn168Ser"
}
],
"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
}