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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: 2-159163315-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159163315&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TANC1",
"hgnc_id": 29364,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_033394.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 6,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.4748,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7976844906806946,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7501,
"cdna_start": 983,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_033394.3",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263635.8",
"protein_coding": true,
"protein_id": "NP_203752.2",
"strand": true,
"transcript": "NM_033394.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7501,
"cdna_start": 983,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000263635.8",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033394.3",
"protein_coding": true,
"protein_id": "ENSP00000263635.6",
"strand": true,
"transcript": "ENST00000263635.8",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1879,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 5640,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000851031.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521100.1",
"strand": true,
"transcript": "ENST00000851031.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1879,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7400,
"cdna_start": 885,
"cds_end": null,
"cds_length": 5640,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950898.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.769C>G",
"hgvs_p": "p.Arg257Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620957.1",
"strand": true,
"transcript": "ENST00000950898.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1871,
"aa_ref": "R",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7597,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 5616,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000851030.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.745C>G",
"hgvs_p": "p.Arg249Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521099.1",
"strand": true,
"transcript": "ENST00000851030.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7362,
"cdna_start": 844,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000851035.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521104.1",
"strand": true,
"transcript": "ENST00000851035.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7517,
"cdna_start": 999,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950882.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620941.1",
"strand": true,
"transcript": "ENST00000950882.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7633,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000950888.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620947.1",
"strand": true,
"transcript": "ENST00000950888.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7661,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 5586,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000950894.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620953.1",
"strand": true,
"transcript": "ENST00000950894.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1860,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7524,
"cdna_start": 997,
"cds_end": null,
"cds_length": 5583,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939551.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Arg238Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609610.1",
"strand": true,
"transcript": "ENST00000939551.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1860,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7524,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 5583,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000939552.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Arg238Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609611.1",
"strand": true,
"transcript": "ENST00000939552.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1860,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7386,
"cdna_start": 870,
"cds_end": null,
"cds_length": 5583,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950886.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Arg238Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620945.1",
"strand": true,
"transcript": "ENST00000950886.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1854,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7480,
"cdna_start": 983,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001350064.2",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336993.1",
"strand": true,
"transcript": "NM_001350064.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1854,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7649,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001350065.2",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336994.1",
"strand": true,
"transcript": "NM_001350065.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7539,
"cdna_start": 1042,
"cds_end": null,
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"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853141.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523200.1",
"strand": true,
"transcript": "ENST00000853141.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1854,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7631,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000853145.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523204.1",
"strand": true,
"transcript": "ENST00000853145.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1854,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7573,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000939555.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609614.1",
"strand": true,
"transcript": "ENST00000939555.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_length": 7468,
"cdna_start": 974,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950893.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620952.1",
"strand": true,
"transcript": "ENST00000950893.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 844,
"cds_end": null,
"cds_length": 5565,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950896.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620955.1",
"strand": true,
"transcript": "ENST00000950896.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1853,
"aa_ref": "R",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6830,
"cdna_start": 978,
"cds_end": null,
"cds_length": 5562,
"cds_start": 712,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950900.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.712C>G",
"hgvs_p": "p.Arg238Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620959.1",
"strand": true,
"transcript": "ENST00000950900.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1851,
"aa_ref": "R",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7474,
"cdna_start": 986,
"cds_end": null,
"cds_length": 5556,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000853146.1",
"gene_hgnc_id": 29364,
"gene_symbol": "TANC1",
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Arg239Gly",
"intron_rank": null,
"intron_rank_end": null,
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"revel_score": 0.419,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.10000000149011612,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.1,
"transcript": "NM_033394.3"
}
]
}