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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: 17-82870181-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82870181&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_005993.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124904096",
"hgnc_id": null,
"hgvs_c": "n.2446C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "XR_007065971.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 906254,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": null,
"cds_end": null,
"cds_length": 3579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005993.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355528.9",
"protein_coding": true,
"protein_id": "NP_005984.3",
"strand": true,
"transcript": "NM_005993.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": null,
"cds_end": null,
"cds_length": 3579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355528.9",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005993.5",
"protein_coding": true,
"protein_id": "ENSP00000347719.4",
"strand": true,
"transcript": "ENST00000355528.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1281,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": null,
"cds_end": null,
"cds_length": 3846,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684760.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507696.1",
"strand": true,
"transcript": "ENST00000684760.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1254,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": null,
"cds_end": null,
"cds_length": 3765,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684349.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508067.1",
"strand": true,
"transcript": "ENST00000684349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1230,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": null,
"cds_end": null,
"cds_length": 3693,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539345.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440671.2",
"strand": true,
"transcript": "ENST00000539345.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1224,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": null,
"cds_end": null,
"cds_length": 3675,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857311.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527370.1",
"strand": true,
"transcript": "ENST00000857311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1223,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7252,
"cdna_start": null,
"cds_end": null,
"cds_length": 3672,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684464.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508333.1",
"strand": true,
"transcript": "ENST00000684464.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1222,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": null,
"cds_end": null,
"cds_length": 3669,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682479.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1409-43G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508214.1",
"strand": true,
"transcript": "ENST00000682479.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7100,
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"cds_end": null,
"cds_length": 3663,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684000.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1403-43G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506795.1",
"strand": true,
"transcript": "ENST00000684000.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3999,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "ENST00000959286.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629345.1",
"strand": true,
"transcript": "ENST00000959286.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
"intron_variant"
],
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"feature": "ENST00000959289.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
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"protein_coding": true,
"protein_id": "ENSP00000629348.1",
"strand": true,
"transcript": "ENST00000959289.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000857314.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
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"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 39,
"exon_rank": null,
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"feature": "ENST00000857310.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000527369.1",
"strand": true,
"transcript": "ENST00000857310.1",
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},
{
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"consequences": [
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],
"exon_count": 38,
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"feature": "ENST00000959287.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000959287.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 40,
"exon_rank": null,
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"feature": "ENST00000915788.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585847.1",
"strand": true,
"transcript": "ENST00000915788.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3528,
"cds_start": null,
"consequences": [
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],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411101.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1268-43G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001398030.1",
"strand": true,
"transcript": "NM_001411101.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000682722.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1268-43G>A",
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},
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"consequences": [
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],
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"feature": "ENST00000684429.1",
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"gene_symbol": "TBCD",
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"protein_coding": true,
"protein_id": "ENSP00000507224.1",
"strand": true,
"transcript": "ENST00000684429.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001411102.1",
"gene_hgnc_id": 11581,
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"hgvs_c": "c.1319-43G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001398031.1",
"strand": true,
"transcript": "NM_001411102.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
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"feature": "ENST00000684544.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.1319-43G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507337.1",
"strand": true,
"transcript": "ENST00000684544.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3495,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
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