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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: 9-104101967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=104101967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMC2",
"hgnc_id": 14011,
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_006444.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.2285,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.34967637062072754,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5928,
"cdna_start": 874,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006444.3",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374793.8",
"protein_coding": true,
"protein_id": "NP_006435.2",
"strand": true,
"transcript": "NM_006444.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5928,
"cdna_start": 874,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000374793.8",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006444.3",
"protein_coding": true,
"protein_id": "ENSP00000363925.3",
"strand": true,
"transcript": "ENST00000374793.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5992,
"cdna_start": 948,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000286398.11",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000286398.7",
"strand": true,
"transcript": "ENST00000286398.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 917,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001042550.2",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036015.1",
"strand": true,
"transcript": "NM_001042550.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 883,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001042551.2",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036016.1",
"strand": true,
"transcript": "NM_001042551.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5953,
"cdna_start": 899,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001265602.2",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001252531.1",
"strand": true,
"transcript": "NM_001265602.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4266,
"cdna_start": 980,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000374787.7",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363919.3",
"strand": true,
"transcript": "ENST00000374787.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886042.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556101.1",
"strand": true,
"transcript": "ENST00000886042.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 843,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886043.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556102.1",
"strand": true,
"transcript": "ENST00000886043.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8969,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926170.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596229.1",
"strand": true,
"transcript": "ENST00000926170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5994,
"cdna_start": 940,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926171.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596230.1",
"strand": true,
"transcript": "ENST00000926171.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1197,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 892,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926172.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596231.1",
"strand": true,
"transcript": "ENST00000926172.1",
"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": 5672,
"cdna_start": 961,
"cds_end": null,
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"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
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"feature": "ENST00000926173.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596232.1",
"strand": true,
"transcript": "ENST00000926173.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4202,
"cdna_start": 911,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926174.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596233.1",
"strand": true,
"transcript": "ENST00000926174.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6071,
"cdna_start": 963,
"cds_end": null,
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"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956306.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626365.1",
"strand": true,
"transcript": "ENST00000956306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6506,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000956307.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626366.1",
"strand": true,
"transcript": "ENST00000956307.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1197,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 728,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000956308.1",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626367.1",
"strand": true,
"transcript": "ENST00000956308.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 144,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 479,
"cds_end": null,
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"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440179.5",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Ser70Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414999.1",
"strand": true,
"transcript": "ENST00000440179.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5899,
"cdna_start": 845,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006716933.4",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716996.1",
"strand": true,
"transcript": "XM_006716933.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 763,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518148.3",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516450.1",
"strand": true,
"transcript": "XM_011518148.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "S",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11449,
"cdna_start": 6395,
"cds_end": null,
"cds_length": 3594,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011518149.4",
"gene_hgnc_id": 14011,
"gene_symbol": "SMC2",
"hgvs_c": "c.644C>T",
"hgvs_p": "p.Ser215Leu",
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