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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: 17-81512098-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81512098&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ACTG1",
"hgnc_id": 144,
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001614.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 72,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "ACTG1-related disorder,Autosomal dominant nonsyndromic hearing loss 20,Baraitser-winter syndrome 2,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001614.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000573283.7",
"protein_coding": true,
"protein_id": "NP_001605.1",
"strand": false,
"transcript": "NM_001614.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000573283.7",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001614.5",
"protein_coding": true,
"protein_id": "ENSP00000458435.1",
"strand": false,
"transcript": "ENST00000573283.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 595,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000575842.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458162.1",
"strand": false,
"transcript": "ENST00000575842.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 221,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000615544.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000477968.1",
"strand": false,
"transcript": "ENST00000615544.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000574671.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.292C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000574671.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000576209.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "n.53C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000576209.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 235,
"cds_end": null,
"cds_length": 1143,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915975.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586034.1",
"strand": false,
"transcript": "ENST00000915975.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 248,
"cds_end": null,
"cds_length": 1134,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915968.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586027.1",
"strand": false,
"transcript": "ENST00000915968.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001199954.3",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186883.1",
"strand": false,
"transcript": "NM_001199954.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 378,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570382.2",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466346.2",
"strand": false,
"transcript": "ENST00000570382.2",
"transcript_support_level": 4
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000571721.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460660.2",
"strand": false,
"transcript": "ENST00000571721.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575087.5",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459124.1",
"strand": false,
"transcript": "ENST00000575087.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575659.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459119.2",
"strand": false,
"transcript": "ENST00000575659.6",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000575994.6",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460464.2",
"strand": false,
"transcript": "ENST00000575994.6",
"transcript_support_level": 3
},
{
"aa_alt": "D",
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"aa_length": 375,
"aa_ref": "D",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 245,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679480.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506201.1",
"strand": false,
"transcript": "ENST00000679480.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 254,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681052.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505060.1",
"strand": false,
"transcript": "ENST00000681052.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 471,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000863045.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533104.1",
"strand": false,
"transcript": "ENST00000863045.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 375,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000863046.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533105.1",
"strand": false,
"transcript": "ENST00000863046.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 268,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915961.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586020.1",
"strand": false,
"transcript": "ENST00000915961.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 345,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915962.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586021.1",
"strand": false,
"transcript": "ENST00000915962.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2629,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1128,
"cds_start": 168,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915963.1",
"gene_hgnc_id": 144,
"gene_symbol": "ACTG1",
"hgvs_c": "c.168C>T",
"hgvs_p": "p.Asp56Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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{
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{
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],
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"dbsnp": "rs368299537",
"effect": "synonymous_variant",
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"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided|Baraitser-winter syndrome 2;Autosomal dominant nonsyndromic hearing loss 20|ACTG1-related disorder",
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}
]
}