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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: 7-100885015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100885015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100885015,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000611405.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "NM_015908.6",
"protein_id": "NP_056992.4",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 876,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": "ENST00000611405.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "ENST00000611405.5",
"protein_id": "ENSP00000480421.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 876,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": "NM_015908.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "ENST00000614484.4",
"protein_id": "ENSP00000481173.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 875,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "ENST00000618262.4",
"protein_id": "ENSP00000478341.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 872,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "ENST00000618411.4",
"protein_id": "ENSP00000483556.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 871,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Gln8Gln",
"transcript": "ENST00000448764.5",
"protein_id": "ENSP00000410588.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 499,
"cds_start": 24,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "NM_001128852.2",
"protein_id": "NP_001122324.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 875,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "NM_001128853.2",
"protein_id": "NP_001122325.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 872,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln",
"transcript": "NM_001128854.2",
"protein_id": "NP_001122326.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 871,
"cds_start": 1134,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1378,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Gln385Gln",
"transcript": "XM_005250405.3",
"protein_id": "XP_005250462.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 883,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Gln385Gln",
"transcript": "XM_005250406.3",
"protein_id": "XP_005250463.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 882,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Gln385Gln",
"transcript": "XM_005250407.3",
"protein_id": "XP_005250464.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 879,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Gln385Gln",
"transcript": "XM_005250408.2",
"protein_id": "XP_005250465.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 878,
"cds_start": 1155,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Gln299Gln",
"transcript": "XM_047420459.1",
"protein_id": "XP_047276415.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 793,
"cds_start": 897,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.897G>A",
"hgvs_p": "p.Gln299Gln",
"transcript": "XM_047420460.1",
"protein_id": "XP_047276416.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 792,
"cds_start": 897,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2832,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "n.178G>A",
"hgvs_p": null,
"transcript": "ENST00000460194.1",
"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": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"dbsnp": "rs780669876",
"frequency_reference_population": 0.0000018587959,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84072e-7,
"gnomad_genomes_af": 0.000013148,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"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": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.496,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000611405.5",
"gene_symbol": "SRRT",
"hgnc_id": 24101,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Gln378Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}