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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: 1-46652272-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46652272&ref=C&alt=G&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": "ATPAF1",
"hgnc_id": 18803,
"hgvs_c": "c.657+309G>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_022745.6",
"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": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "1",
"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": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394565.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000574428.6",
"protein_coding": true,
"protein_id": "NP_001381494.1",
"strand": false,
"transcript": "NM_001394565.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574428.6",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001394565.1",
"protein_coding": true,
"protein_id": "ENSP00000459167.2",
"strand": false,
"transcript": "ENST00000574428.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 351,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": null,
"cds_end": null,
"cds_length": 1056,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576409.5",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.657+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460964.1",
"strand": false,
"transcript": "ENST00000576409.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 351,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4261,
"cdna_start": null,
"cds_end": null,
"cds_length": 1056,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022745.6",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.657+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_073582.3",
"strand": false,
"transcript": "NM_022745.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870207.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.615+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540266.1",
"strand": false,
"transcript": "ENST00000870207.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1765,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923241.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593300.1",
"strand": false,
"transcript": "ENST00000923241.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870209.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540268.1",
"strand": false,
"transcript": "ENST00000870209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": null,
"cds_end": null,
"cds_length": 924,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870203.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.525+309G>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540262.1",
"strand": false,
"transcript": "ENST00000870203.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": null,
"cds_end": null,
"cds_length": 891,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923240.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593299.1",
"strand": false,
"transcript": "ENST00000923240.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 295,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870206.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.489+5855G>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540265.1",
"strand": false,
"transcript": "ENST00000870206.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870205.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.588+309G>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000540264.1",
"strand": false,
"transcript": "ENST00000870205.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 1639,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000870208.1",
"gene_hgnc_id": 18803,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000540267.1",
"strand": false,
"transcript": "ENST00000870208.1",
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},
{
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],
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"feature": "NM_001042546.2",
"gene_hgnc_id": 18803,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001042546.2",
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},
{
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"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000329231.8",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.657+309G>C",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000330685.4",
"strand": false,
"transcript": "ENST00000329231.8",
"transcript_support_level": 2
},
{
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],
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"feature": "ENST00000870204.1",
"gene_hgnc_id": 18803,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000540263.1",
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"transcript": "ENST00000870204.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000870202.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.537+309G>C",
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"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000540261.1",
"strand": false,
"transcript": "ENST00000870202.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "NM_001243728.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.324+309G>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001230657.1",
"strand": false,
"transcript": "NM_001243728.1",
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},
{
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],
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"feature": "ENST00000532925.5",
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},
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],
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"feature": "ENST00000870210.1",
"gene_hgnc_id": 18803,
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},
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000534216.5",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.150+309G>C",
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"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000432771.1",
"strand": false,
"transcript": "ENST00000534216.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 534,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256418.1",
"gene_hgnc_id": 18803,
"gene_symbol": "ATPAF1",
"hgvs_c": "c.135+309G>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243347.1",
"strand": false,
"transcript": "NM_001256418.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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