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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: 17-38559642-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38559642&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 38559642,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000617146.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.1968C>T",
"hgvs_p": "p.Gly656Gly",
"transcript": "NM_025248.3",
"protein_id": "NP_079524.2",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1183,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 7065,
"mane_select": "ENST00000617146.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.1968C>T",
"hgvs_p": "p.Gly656Gly",
"transcript": "ENST00000617146.5",
"protein_id": "ENSP00000484715.1",
"transcript_support_level": 1,
"aa_start": 656,
"aa_end": null,
"aa_length": 1183,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 7065,
"mane_select": "NM_025248.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2070C>T",
"hgvs_p": "p.Gly690Gly",
"transcript": "ENST00000621492.4",
"protein_id": "ENSP00000483931.1",
"transcript_support_level": 5,
"aa_start": 690,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2070,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.1584C>T",
"hgvs_p": "p.Gly528Gly",
"transcript": "ENST00000622519.4",
"protein_id": "ENSP00000499298.1",
"transcript_support_level": 2,
"aa_start": 528,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1584,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.1329C>T",
"hgvs_p": "p.Gly443Gly",
"transcript": "ENST00000622190.4",
"protein_id": "ENSP00000479718.1",
"transcript_support_level": 2,
"aa_start": 443,
"aa_end": null,
"aa_length": 927,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2076C>T",
"hgvs_p": "p.Gly692Gly",
"transcript": "XM_017025169.2",
"protein_id": "XP_016880658.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 1479,
"cds_start": 2076,
"cds_end": null,
"cds_length": 4440,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 7994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2172C>T",
"hgvs_p": "p.Gly724Gly",
"transcript": "XM_017025170.2",
"protein_id": "XP_016880659.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1292,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 7261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2172C>T",
"hgvs_p": "p.Gly724Gly",
"transcript": "XM_017025171.2",
"protein_id": "XP_016880660.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1251,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3756,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2172C>T",
"hgvs_p": "p.Gly724Gly",
"transcript": "XM_047436851.1",
"protein_id": "XP_047292807.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1249,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3750,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2070C>T",
"hgvs_p": "p.Gly690Gly",
"transcript": "XM_017025172.2",
"protein_id": "XP_016880661.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2070,
"cds_end": null,
"cds_length": 3654,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2172C>T",
"hgvs_p": "p.Gly724Gly",
"transcript": "XM_017025173.2",
"protein_id": "XP_016880662.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 1208,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Gly667Gly",
"transcript": "XM_047436852.1",
"protein_id": "XP_047292808.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 1192,
"cds_start": 2001,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 5717,
"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": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "n.1800C>T",
"hgvs_p": null,
"transcript": "ENST00000621763.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 5225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"hgvs_c": "n.-169C>T",
"hgvs_p": null,
"transcript": "ENST00000612208.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRCIN1",
"gene_hgnc_id": 29506,
"dbsnp": "rs763475410",
"frequency_reference_population": 0.0000013785194,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000137852,
"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": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.223,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000617146.5",
"gene_symbol": "SRCIN1",
"hgnc_id": 29506,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1968C>T",
"hgvs_p": "p.Gly656Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}