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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: 4-89836158-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=89836158&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "SNCA",
"hgnc_id": 11138,
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001375288.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "SNCA-AS1",
"hgnc_id": 50600,
"hgvs_c": "n.-250A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000513653.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 160929,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 126,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3022,
"cdna_start": null,
"cds_end": null,
"cds_length": 381,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000618500.4",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484044.1",
"strand": false,
"transcript": "ENST00000618500.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000345.4",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394991.8",
"protein_coding": true,
"protein_id": "NP_000336.1",
"strand": false,
"transcript": "NM_000345.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394991.8",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000345.4",
"protein_coding": true,
"protein_id": "ENSP00000378442.4",
"strand": false,
"transcript": "ENST00000394991.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394986.5",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378437.1",
"strand": false,
"transcript": "ENST00000394986.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 126,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": null,
"cds_end": null,
"cds_length": 381,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394989.6",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378440.2",
"strand": false,
"transcript": "ENST00000394989.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001375288.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362217.1",
"strand": false,
"transcript": "NM_001375288.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000508895.5",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426955.1",
"strand": false,
"transcript": "ENST00000508895.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6221,
"cdna_start": null,
"cds_end": null,
"cds_length": 513,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011532207.2",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-57T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530509.1",
"strand": false,
"transcript": "XM_011532207.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 159,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2139,
"cdna_start": null,
"cds_end": null,
"cds_length": 480,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674129.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501269.1",
"strand": false,
"transcript": "ENST00000674129.1",
"transcript_support_level": null
},
{
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"aa_length": 151,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": null,
"cds_end": null,
"cds_length": 456,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000673902.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000501102.1",
"strand": false,
"transcript": "ENST00000673902.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001146054.2",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001139526.1",
"strand": false,
"transcript": "NM_001146054.2",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001146055.2",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
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"protein_coding": true,
"protein_id": "NP_001139527.1",
"strand": false,
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},
{
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"consequences": [
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],
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"feature": "NM_001375285.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-26+303T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362214.1",
"strand": false,
"transcript": "NM_001375285.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001375286.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362215.1",
"strand": false,
"transcript": "NM_001375286.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "NM_001375287.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-26+303T>C",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362216.1",
"strand": false,
"transcript": "NM_001375287.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000336904.7",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338345.3",
"strand": false,
"transcript": "ENST00000336904.7",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000506244.5",
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"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
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"protein_coding": true,
"protein_id": "ENSP00000422238.1",
"strand": false,
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},
{
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],
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"feature": "ENST00000673718.1",
"gene_hgnc_id": 11138,
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"protein_coding": true,
"protein_id": "ENSP00000500990.1",
"strand": false,
"transcript": "ENST00000673718.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000889657.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
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"protein_coding": true,
"protein_id": "ENSP00000559716.1",
"strand": false,
"transcript": "ENST00000889657.1",
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},
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000889658.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-25-466T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559717.1",
"strand": false,
"transcript": "ENST00000889658.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889659.1",
"gene_hgnc_id": 11138,
"gene_symbol": "SNCA",
"hgvs_c": "c.-26+303T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559718.1",
"strand": false,
"transcript": "ENST00000889659.1",
"transcript_support_level": null
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