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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: 8-10245168-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=10245168&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 10245168,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_012331.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "NM_012331.5",
"protein_id": "NP_036463.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 235,
"cds_start": 276,
"cds_end": null,
"cds_length": 708,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": "ENST00000317173.9",
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "ENST00000317173.9",
"protein_id": "ENSP00000313921.4",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 235,
"cds_start": 276,
"cds_end": null,
"cds_length": 708,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": "NM_012331.5",
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.147A>G",
"hgvs_p": "p.Gln49Gln",
"transcript": "ENST00000382490.9",
"protein_id": "ENSP00000371930.5",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 192,
"cds_start": 147,
"cds_end": null,
"cds_length": 579,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1460,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Gln26Gln",
"transcript": "ENST00000528246.5",
"protein_id": "ENSP00000436839.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 169,
"cds_start": 78,
"cds_end": null,
"cds_length": 510,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1706,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "ENST00000518255.5",
"protein_id": "ENSP00000429461.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 213,
"cds_start": 276,
"cds_end": null,
"cds_length": 642,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 674,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.147A>G",
"hgvs_p": "p.Gln49Gln",
"transcript": "NM_001135671.3",
"protein_id": "NP_001129143.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 192,
"cds_start": 147,
"cds_end": null,
"cds_length": 579,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1538,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Gln26Gln",
"transcript": "NM_001199729.3",
"protein_id": "NP_001186658.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 169,
"cds_start": 78,
"cds_end": null,
"cds_length": 510,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1613,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Gln26Gln",
"transcript": "ENST00000522907.5",
"protein_id": "ENSP00000428214.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 81,
"cds_start": 78,
"cds_end": null,
"cds_length": 247,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 871,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Gln26Gln",
"transcript": "ENST00000521209.6",
"protein_id": "ENSP00000435644.1",
"transcript_support_level": 3,
"aa_start": 26,
"aa_end": null,
"aa_length": 59,
"cds_start": 78,
"cds_end": null,
"cds_length": 180,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 814,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "XM_011543822.3",
"protein_id": "XP_011542124.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 201,
"cds_start": 276,
"cds_end": null,
"cds_length": 606,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1365,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "XM_011543823.3",
"protein_id": "XP_011542125.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 201,
"cds_start": 276,
"cds_end": null,
"cds_length": 606,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1964,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.78A>G",
"hgvs_p": "p.Gln26Gln",
"transcript": "XM_017013450.3",
"protein_id": "XP_016868939.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 169,
"cds_start": 78,
"cds_end": null,
"cds_length": 510,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1414,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.147A>G",
"hgvs_p": "p.Gln49Gln",
"transcript": "XM_017013451.3",
"protein_id": "XP_016868940.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 158,
"cds_start": 147,
"cds_end": null,
"cds_length": 477,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1990,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln",
"transcript": "XM_024447162.2",
"protein_id": "XP_024302930.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 125,
"cds_start": 276,
"cds_end": null,
"cds_length": 378,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1051,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "n.451A>G",
"hgvs_p": null,
"transcript": "ENST00000523637.2",
"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": 1092,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.211+37267A>G",
"hgvs_p": null,
"transcript": "NM_001135670.3",
"protein_id": "NP_001129142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1392,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"hgvs_c": "c.211+37267A>G",
"hgvs_p": null,
"transcript": "ENST00000441698.6",
"protein_id": "ENSP00000410912.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MSRA",
"gene_hgnc_id": 7377,
"dbsnp": "rs1171413366",
"frequency_reference_population": 0.000004337803,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410508,
"gnomad_genomes_af": 0.00000657393,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.398,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": "NM_012331.5",
"gene_symbol": "MSRA",
"hgnc_id": 7377,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.276A>G",
"hgvs_p": "p.Gln92Gln"
}
],
"clinvar_disease": "MSRA-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "MSRA-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}