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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: 6-111352511-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111352511&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "REV3L",
"hgnc_id": 9968,
"hgvs_c": "c.7185-720A>T",
"hgvs_p": null,
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002912.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MFSD4B",
"hgnc_id": 21053,
"hgvs_c": "n.278-3272T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000666581.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10706,
"cdna_start": null,
"cds_end": null,
"cds_length": 9393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372078.1",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7185-720A>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368802.8",
"protein_coding": true,
"protein_id": "NP_001359007.1",
"strand": false,
"transcript": "NM_001372078.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10706,
"cdna_start": null,
"cds_end": null,
"cds_length": 9393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000368802.8",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7185-720A>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001372078.1",
"protein_coding": true,
"protein_id": "ENSP00000357792.3",
"strand": false,
"transcript": "ENST00000368802.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10830,
"cdna_start": null,
"cds_end": null,
"cds_length": 9393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002912.5",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7185-720A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002903.3",
"strand": false,
"transcript": "NM_002912.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10815,
"cdna_start": null,
"cds_end": null,
"cds_length": 9393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358835.7",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7185-720A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351697.3",
"strand": false,
"transcript": "ENST00000358835.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11065,
"cdna_start": null,
"cds_end": null,
"cds_length": 9159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286431.2",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.6951-720A>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273360.1",
"strand": false,
"transcript": "NM_001286431.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10958,
"cdna_start": null,
"cds_end": null,
"cds_length": 9159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286432.2",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.6951-720A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273361.1",
"strand": false,
"transcript": "NM_001286432.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10943,
"cdna_start": null,
"cds_end": null,
"cds_length": 9159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435970.5",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.6951-720A>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402003.1",
"strand": false,
"transcript": "ENST00000435970.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3157,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10798,
"cdna_start": null,
"cds_end": null,
"cds_length": 9474,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536028.3",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7266-720A>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534330.1",
"strand": false,
"transcript": "XM_011536028.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10795,
"cdna_start": null,
"cds_end": null,
"cds_length": 9471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011536029.4",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7263-720A>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011534331.1",
"strand": false,
"transcript": "XM_011536029.4",
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},
{
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"consequences": [
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],
"exon_count": 32,
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"feature": "XM_011536030.4",
"gene_hgnc_id": 9968,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011534332.1",
"strand": false,
"transcript": "XM_011536030.4",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "XM_011536032.3",
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"gene_symbol": "REV3L",
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"protein_id": "XP_011534334.1",
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},
{
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],
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"feature": "XM_047419215.1",
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},
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"feature": "XM_047419216.1",
"gene_hgnc_id": 9968,
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"hgvs_c": "c.7188-720A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275172.1",
"strand": false,
"transcript": "XM_047419216.1",
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},
{
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],
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"feature": "XM_047419217.1",
"gene_hgnc_id": 9968,
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"hgvs_c": "c.7266-720A>T",
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},
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"consequences": [
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],
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"feature": "XM_047419218.1",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "c.7266-720A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275174.1",
"strand": false,
"transcript": "XM_047419218.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_047419219.1",
"gene_hgnc_id": 9968,
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"hgvs_c": "c.7188-720A>T",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275175.1",
"strand": false,
"transcript": "XM_047419219.1",
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},
{
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"consequences": [
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],
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"feature": "XM_047419220.1",
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},
{
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],
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"feature": "ENST00000413831.1",
"gene_hgnc_id": 9968,
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"protein_id": "ENSP00000400600.1",
"strand": false,
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},
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],
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"feature": "ENST00000422377.5",
"gene_hgnc_id": 9968,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000393184.1",
"strand": false,
"transcript": "ENST00000422377.5",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
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"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000434009.5",
"gene_hgnc_id": 9968,
"gene_symbol": "REV3L",
"hgvs_c": "n.*7276-720A>T",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000391605.1",
"strand": false,
"transcript": "ENST00000434009.5",
"transcript_support_level": 2
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000666581.2",
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