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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: 6-35072643-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35072643&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": "ANKS1A",
"hgnc_id": 20961,
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015245.3",
"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": 1134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6350,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015245.3",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360359.5",
"protein_coding": true,
"protein_id": "NP_056060.2",
"strand": true,
"transcript": "NM_015245.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6350,
"cdna_start": null,
"cds_end": null,
"cds_length": 3405,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360359.5",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015245.3",
"protein_coding": true,
"protein_id": "ENSP00000353518.3",
"strand": true,
"transcript": "ENST00000360359.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5615,
"cdna_start": null,
"cds_end": null,
"cds_length": 3585,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649117.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2248-5915T>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497393.1",
"strand": true,
"transcript": "ENST00000649117.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1167,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6407,
"cdna_start": null,
"cds_end": null,
"cds_length": 3504,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922348.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592407.1",
"strand": true,
"transcript": "ENST00000922348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6393,
"cdna_start": null,
"cds_end": null,
"cds_length": 3498,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922349.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2278-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592408.1",
"strand": true,
"transcript": "ENST00000922349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1135,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6349,
"cdna_start": null,
"cds_end": null,
"cds_length": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922344.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592403.1",
"strand": true,
"transcript": "ENST00000922344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6281,
"cdna_start": null,
"cds_end": null,
"cds_length": 3333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863285.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2185-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533344.1",
"strand": true,
"transcript": "ENST00000863285.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6266,
"cdna_start": null,
"cds_end": null,
"cds_length": 3327,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922345.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2104-5915T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592404.1",
"strand": true,
"transcript": "ENST00000922345.1",
"transcript_support_level": null
},
{
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"aa_length": 1107,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6282,
"cdna_start": null,
"cds_end": null,
"cds_length": 3324,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922343.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2104-5915T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592402.1",
"strand": true,
"transcript": "ENST00000922343.1",
"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": 6197,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863286.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2104-5915T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533345.1",
"strand": true,
"transcript": "ENST00000863286.1",
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},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 3231,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000968231.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2011-5915T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638290.1",
"strand": true,
"transcript": "ENST00000968231.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000922350.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592409.1",
"strand": true,
"transcript": "ENST00000922350.1",
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},
{
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],
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"feature": "ENST00000922347.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.1699-5915T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592406.1",
"strand": true,
"transcript": "ENST00000922347.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2919,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000922342.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.1699-5915T>A",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592401.1",
"strand": true,
"transcript": "ENST00000922342.1",
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},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000922346.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.1618-5915T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592405.1",
"strand": true,
"transcript": "ENST00000922346.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 1503,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000698906.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.283-5915T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514021.1",
"strand": true,
"transcript": "ENST00000698906.1",
"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,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000698907.1",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.217-5915T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514022.1",
"strand": true,
"transcript": "ENST00000698907.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000698908.1",
"gene_hgnc_id": 20961,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000514023.1",
"strand": true,
"transcript": "ENST00000698908.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_011514431.4",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2248-5915T>A",
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"protein_coding": true,
"protein_id": "XP_011512733.1",
"strand": true,
"transcript": "XM_011514431.4",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
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"feature": "XM_011514432.4",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2248-5915T>A",
"hgvs_p": null,
"intron_rank": 14,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512734.1",
"strand": true,
"transcript": "XM_011514432.4",
"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": 3489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514433.2",
"gene_hgnc_id": 20961,
"gene_symbol": "ANKS1A",
"hgvs_c": "c.2248-5915T>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512735.1",
"strand": true,
"transcript": "XM_011514433.2",
"transcript_support_level": null
},
{
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