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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: 20-63873813-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63873813&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPD52L2",
"hgnc_id": 12007,
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_199360.3",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000290226",
"hgnc_id": null,
"hgvs_c": "n.348G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000703636.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_score": -4,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.0589,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0254838764667511,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 206,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 407,
"cds_end": null,
"cds_length": 621,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003288.4",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346249.9",
"protein_coding": true,
"protein_id": "NP_003279.2",
"strand": true,
"transcript": "NM_003288.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 206,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 407,
"cds_end": null,
"cds_length": 621,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000346249.9",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003288.4",
"protein_coding": true,
"protein_id": "ENSP00000343547.4",
"strand": true,
"transcript": "ENST00000346249.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 220,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 387,
"cds_end": null,
"cds_length": 663,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000352482.8",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344647.4",
"strand": true,
"transcript": "ENST00000352482.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 186,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2237,
"cdna_start": 387,
"cds_end": null,
"cds_length": 561,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000348257.9",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343554.5",
"strand": true,
"transcript": "ENST00000348257.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 294,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": 407,
"cds_end": null,
"cds_length": 885,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941625.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611684.1",
"strand": true,
"transcript": "ENST00000941625.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 229,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 407,
"cds_end": null,
"cds_length": 690,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_199360.3",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955392.1",
"strand": true,
"transcript": "NM_199360.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 229,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 383,
"cds_end": null,
"cds_length": 690,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000217121.9",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000217121.5",
"strand": true,
"transcript": "ENST00000217121.9",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 407,
"cds_end": null,
"cds_length": 669,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001243895.2",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230824.1",
"strand": true,
"transcript": "NM_001243895.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2310,
"cdna_start": 449,
"cds_end": null,
"cds_length": 669,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000615907.4",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482024.1",
"strand": true,
"transcript": "ENST00000615907.4",
"transcript_support_level": 4
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 222,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1066,
"cdna_start": 348,
"cds_end": null,
"cds_length": 669,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879324.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549383.1",
"strand": true,
"transcript": "ENST00000879324.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 221,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 418,
"cds_end": null,
"cds_length": 666,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938339.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608398.1",
"strand": true,
"transcript": "ENST00000938339.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 220,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 407,
"cds_end": null,
"cds_length": 663,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_199362.3",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955394.1",
"strand": true,
"transcript": "NM_199362.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 211,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 407,
"cds_end": null,
"cds_length": 636,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879322.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549381.1",
"strand": true,
"transcript": "ENST00000879322.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 210,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 407,
"cds_end": null,
"cds_length": 633,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000941624.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611683.1",
"strand": true,
"transcript": "ENST00000941624.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 209,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 407,
"cds_end": null,
"cds_length": 630,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_199361.3",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955393.1",
"strand": true,
"transcript": "NM_199361.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 209,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 383,
"cds_end": null,
"cds_length": 630,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000351424.8",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340006.4",
"strand": true,
"transcript": "ENST00000351424.8",
"transcript_support_level": 2
},
{
"aa_alt": "N",
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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": 407,
"cds_end": null,
"cds_length": 615,
"cds_start": 311,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938341.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608400.1",
"strand": true,
"transcript": "ENST00000938341.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 201,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 397,
"cds_end": null,
"cds_length": 606,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000938343.1",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608402.1",
"strand": true,
"transcript": "ENST00000938343.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 200,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 407,
"cds_end": null,
"cds_length": 603,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_199363.3",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_955395.1",
"strand": true,
"transcript": "NM_199363.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 200,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 383,
"cds_end": null,
"cds_length": 603,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000358548.4",
"gene_hgnc_id": 12007,
"gene_symbol": "TPD52L2",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Ser104Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351350.4",
"strand": true,
"transcript": "ENST00000358548.4",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 198,
"aa_ref": "S",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1380,
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