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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: 7-152145220-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=152145220&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KMT2C",
"hgnc_id": 13726,
"hgvs_c": "c.14107G>A",
"hgvs_p": "p.Val4703Ile",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_170606.3",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000293764",
"hgnc_id": null,
"hgvs_c": "n.214C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000718829.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 74,
"alphamissense_prediction": null,
"alphamissense_score": 0.0723,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "7",
"clinvar_classification": "not provided",
"clinvar_disease": "not specified",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04368707537651062,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4911,
"aa_ref": "V",
"aa_start": 4703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16860,
"cdna_start": 14324,
"cds_end": null,
"cds_length": 14736,
"cds_start": 14107,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_170606.3",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.14107G>A",
"hgvs_p": "p.Val4703Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262189.11",
"protein_coding": true,
"protein_id": "NP_733751.2",
"strand": false,
"transcript": "NM_170606.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4911,
"aa_ref": "V",
"aa_start": 4703,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 16860,
"cdna_start": 14324,
"cds_end": null,
"cds_length": 14736,
"cds_start": 14107,
"consequences": [
"missense_variant"
],
"exon_count": 59,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "ENST00000262189.11",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.14107G>A",
"hgvs_p": "p.Val4703Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_170606.3",
"protein_coding": true,
"protein_id": "ENSP00000262189.6",
"strand": false,
"transcript": "ENST00000262189.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3475,
"aa_ref": "V",
"aa_start": 3298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14292,
"cdna_start": 9894,
"cds_end": null,
"cds_length": 10428,
"cds_start": 9892,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000360104.8",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.9892G>A",
"hgvs_p": "p.Val3298Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353218.4",
"strand": false,
"transcript": "ENST00000360104.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 12854,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 46,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000473186.5",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.11989G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473186.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4968,
"aa_ref": "V",
"aa_start": 4760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15426,
"cdna_start": 14278,
"cds_end": null,
"cds_length": 14907,
"cds_start": 14278,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000682283.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.14278G>A",
"hgvs_p": "p.Val4760Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507485.1",
"strand": false,
"transcript": "ENST00000682283.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4762,
"aa_ref": "V",
"aa_start": 4558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14469,
"cdna_start": 13822,
"cds_end": null,
"cds_length": 14289,
"cds_start": 13672,
"consequences": [
"missense_variant"
],
"exon_count": 56,
"exon_rank": 51,
"exon_rank_end": null,
"feature": "ENST00000679882.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.13672G>A",
"hgvs_p": "p.Val4558Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506154.1",
"strand": false,
"transcript": "ENST00000679882.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 4054,
"aa_ref": "V",
"aa_start": 3873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15972,
"cdna_start": 11617,
"cds_end": null,
"cds_length": 12165,
"cds_start": 11617,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000683200.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.11617G>A",
"hgvs_p": "p.Val3873Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508052.1",
"strand": false,
"transcript": "ENST00000683200.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3211,
"aa_ref": "V",
"aa_start": 3003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11540,
"cdna_start": 9007,
"cds_end": null,
"cds_length": 9636,
"cds_start": 9007,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000680877.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.9007G>A",
"hgvs_p": "p.Val3003Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505724.1",
"strand": false,
"transcript": "ENST00000680877.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3207,
"aa_ref": "V",
"aa_start": 3003,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11523,
"cdna_start": 9007,
"cds_end": null,
"cds_length": 9624,
"cds_start": 9007,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000679560.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.9007G>A",
"hgvs_p": "p.Val3003Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505094.1",
"strand": false,
"transcript": "ENST00000679560.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 3206,
"aa_ref": "V",
"aa_start": 3002,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10473,
"cdna_start": 9004,
"cds_end": null,
"cds_length": 9621,
"cds_start": 9004,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000684261.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.9004G>A",
"hgvs_p": "p.Val3002Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508097.1",
"strand": false,
"transcript": "ENST00000684261.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1792,
"aa_ref": "V",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5587,
"cdna_start": 4752,
"cds_end": null,
"cds_length": 5379,
"cds_start": 4750,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000684649.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.4750G>A",
"hgvs_p": "p.Val1584Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508306.1",
"strand": false,
"transcript": "ENST00000684649.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "V",
"aa_start": 1583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7285,
"cdna_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4747,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000418061.2",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.4747G>A",
"hgvs_p": "p.Val1583Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408001.2",
"strand": false,
"transcript": "ENST00000418061.2",
"transcript_support_level": 5
},
{
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"aa_length": 1788,
"aa_ref": "V",
"aa_start": 1584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6590,
"cdna_start": 4752,
"cds_end": null,
"cds_length": 5367,
"cds_start": 4750,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683502.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.4750G>A",
"hgvs_p": "p.Val1584Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506844.1",
"strand": false,
"transcript": "ENST00000683502.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1765,
"aa_ref": "V",
"aa_start": 1561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7203,
"cdna_start": 4683,
"cds_end": null,
"cds_length": 5298,
"cds_start": 4681,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000424877.6",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.4681G>A",
"hgvs_p": "p.Val1561Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410411.2",
"strand": false,
"transcript": "ENST00000424877.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1764,
"aa_ref": "V",
"aa_start": 1560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6914,
"cdna_start": 4680,
"cds_end": null,
"cds_length": 5295,
"cds_start": 4678,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000683178.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "c.4678G>A",
"hgvs_p": "p.Val1560Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507112.1",
"strand": false,
"transcript": "ENST00000683178.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 11300,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000679393.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.8818G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679393.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000679567.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.592G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000679567.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7126,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000680029.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.*2519G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506700.1",
"strand": false,
"transcript": "ENST00000680029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5895,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000681923.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.3122G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000681923.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682040.1",
"gene_hgnc_id": 13726,
"gene_symbol": "KMT2C",
"hgvs_c": "n.*1071G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507621.1",
"strand": false,
"transcript": "ENST00000682040.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
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