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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: 1-236727742-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236727742&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACTN2",
"hgnc_id": 164,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001103.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.2049,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.13,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Dilated cardiomyopathy 1AA,Primary familial hypertrophic cardiomyopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4260697364807129,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 894,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2685,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001103.4",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366578.6",
"protein_coding": true,
"protein_id": "NP_001094.1",
"strand": true,
"transcript": "NM_001103.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 894,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2685,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000366578.6",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001103.4",
"protein_coding": true,
"protein_id": "ENSP00000355537.4",
"strand": true,
"transcript": "ENST00000366578.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 894,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2685,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542672.7",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443495.1",
"strand": true,
"transcript": "ENST00000542672.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 931,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2796,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879537.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549596.1",
"strand": true,
"transcript": "ENST00000879537.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 931,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2796,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967370.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637429.1",
"strand": true,
"transcript": "ENST00000967370.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 928,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2787,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967362.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637421.1",
"strand": true,
"transcript": "ENST00000967362.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "S",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 866,
"cds_end": null,
"cds_length": 2775,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879533.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.691T>C",
"hgvs_p": "p.Ser231Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549592.1",
"strand": true,
"transcript": "ENST00000879533.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 909,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 779,
"cds_end": null,
"cds_length": 2730,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967365.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637424.1",
"strand": true,
"transcript": "ENST00000967365.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 907,
"aa_ref": "S",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2724,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879532.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549591.1",
"strand": true,
"transcript": "ENST00000879532.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 905,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 775,
"cds_end": null,
"cds_length": 2718,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967363.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637422.1",
"strand": true,
"transcript": "ENST00000967363.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 717,
"cds_end": null,
"cds_length": 2697,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967352.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.613T>C",
"hgvs_p": "p.Ser205Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637411.1",
"strand": true,
"transcript": "ENST00000967352.1",
"transcript_support_level": null
},
{
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"aa_length": 895,
"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 779,
"cds_end": null,
"cds_length": 2688,
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"consequences": [
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],
"exon_count": 21,
"exon_rank": 6,
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"feature": "ENST00000879534.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549593.1",
"strand": true,
"transcript": "ENST00000879534.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001278343.2",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265272.1",
"strand": true,
"transcript": "NM_001278343.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 776,
"cds_end": null,
"cds_length": 2682,
"cds_start": 601,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879538.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549597.1",
"strand": true,
"transcript": "ENST00000879538.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000967348.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637407.1",
"strand": true,
"transcript": "ENST00000967348.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 779,
"cds_end": null,
"cds_length": 2679,
"cds_start": 601,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967355.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000637414.1",
"strand": true,
"transcript": "ENST00000967355.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 761,
"cds_end": null,
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"cds_start": 586,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 6,
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"feature": "ENST00000967354.1",
"gene_hgnc_id": 164,
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"hgvs_c": "c.586T>C",
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},
{
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],
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"feature": "ENST00000967356.1",
"gene_hgnc_id": 164,
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"protein_coding": true,
"protein_id": "ENSP00000637415.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000879535.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000549594.1",
"strand": true,
"transcript": "ENST00000879535.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 754,
"cds_end": null,
"cds_length": 2655,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967357.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637416.1",
"strand": true,
"transcript": "ENST00000967357.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 776,
"cds_end": null,
"cds_length": 2646,
"cds_start": 601,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879536.1",
"gene_hgnc_id": 164,
"gene_symbol": "ACTN2",
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Ser201Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
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