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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: 3-4313201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=4313201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SETMAR",
"hgnc_id": 10762,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_006515.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SUMF1",
"hgnc_id": 20376,
"hgvs_c": "n.1014+63129G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000448413.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 81,
"alphamissense_prediction": null,
"alphamissense_score": 0.3566,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3578140437602997,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2055,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006515.4",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358065.5",
"protein_coding": true,
"protein_id": "NP_006506.3",
"strand": true,
"transcript": "NM_006515.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 684,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 462,
"cds_end": null,
"cds_length": 2055,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358065.5",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006515.4",
"protein_coding": true,
"protein_id": "ENSP00000373354.3",
"strand": true,
"transcript": "ENST00000358065.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 470,
"cds_end": null,
"cds_length": 1098,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000430981.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403000.1",
"strand": true,
"transcript": "ENST00000430981.1",
"transcript_support_level": 1
},
{
"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": 1359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000425046.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "n.157-446C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000397463.1",
"strand": true,
"transcript": "ENST00000425046.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 548,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 465,
"cds_end": null,
"cds_length": 1647,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931285.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601344.1",
"strand": true,
"transcript": "ENST00000931285.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1638,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001243723.2",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230652.1",
"strand": true,
"transcript": "NM_001243723.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1657,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1638,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000425863.5",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403145.1",
"strand": true,
"transcript": "ENST00000425863.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 365,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1656,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1098,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001276325.2",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263254.1",
"strand": true,
"transcript": "NM_001276325.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1194,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1113,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047448714.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304670.1",
"strand": true,
"transcript": "XM_047448714.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 369,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1110,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047448715.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304671.1",
"strand": true,
"transcript": "XM_047448715.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 428,
"aa_ref": "F",
"aa_start": 43,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1287,
"cds_start": 129,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001320677.2",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Phe43Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307606.1",
"strand": true,
"transcript": "NM_001320677.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1327,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320676.2",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.72-446C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307605.1",
"strand": true,
"transcript": "NM_001320676.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 396,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001320678.2",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.157-3011C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307607.1",
"strand": true,
"transcript": "NM_001320678.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000864987.1",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.157-3011C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535046.1",
"strand": true,
"transcript": "ENST00000864987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": null,
"cds_end": null,
"cds_length": 637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358950.4",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.198-446C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369673.3",
"strand": true,
"transcript": "ENST00000358950.4",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1425,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006713292.4",
"gene_hgnc_id": 10762,
"gene_symbol": "SETMAR",
"hgvs_c": "c.198-446C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713355.1",
"strand": true,
"transcript": "XM_006713292.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 448,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5449,
"cdna_start": null,
"cds_end": null,
"cds_length": 1347,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533624.4",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1014+63129G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531926.1",
"strand": false,
"transcript": "XM_011533624.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": null,
"cds_end": null,
"cds_length": 1287,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006252.3",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.954+97664G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861741.1",
"strand": false,
"transcript": "XM_017006252.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006253.2",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.939+63129G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861742.1",
"strand": false,
"transcript": "XM_017006253.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 402,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1209,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006254.3",
"gene_hgnc_id": 20376,
"gene_symbol": "SUMF1",
"hgvs_c": "c.1014+63129G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861743.1",
"strand": false,
"transcript": "XM_017006254.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011533625.4",
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