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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: 10-103449409-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=103449409&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CALHM2",
"hgnc_id": 23493,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015916.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 82,
"alphamissense_prediction": null,
"alphamissense_score": 0.247,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5589937567710876,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_015916.5",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260743.10",
"protein_coding": true,
"protein_id": "NP_057000.2",
"strand": false,
"transcript": "NM_015916.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1914,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000260743.10",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015916.5",
"protein_coding": true,
"protein_id": "ENSP00000260743.5",
"strand": false,
"transcript": "ENST00000260743.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000369788.7",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358803.3",
"strand": false,
"transcript": "ENST00000369788.7",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 1785,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882006.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552065.1",
"strand": false,
"transcript": "ENST00000882006.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882007.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552066.1",
"strand": false,
"transcript": "ENST00000882007.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882008.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552067.1",
"strand": false,
"transcript": "ENST00000882008.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882009.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552068.1",
"strand": false,
"transcript": "ENST00000882009.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000882010.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552069.1",
"strand": false,
"transcript": "ENST00000882010.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 944,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000882011.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552070.1",
"strand": false,
"transcript": "ENST00000882011.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2569,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882012.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552071.1",
"strand": false,
"transcript": "ENST00000882012.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 323,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882013.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552072.1",
"strand": false,
"transcript": "ENST00000882013.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 323,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882014.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552073.1",
"strand": false,
"transcript": "ENST00000882014.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 1142,
"cds_end": null,
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"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882015.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552074.1",
"strand": false,
"transcript": "ENST00000882015.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 323,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000882016.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552075.1",
"strand": false,
"transcript": "ENST00000882016.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 323,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1929,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000882017.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552076.1",
"strand": false,
"transcript": "ENST00000882017.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882018.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552077.1",
"strand": false,
"transcript": "ENST00000882018.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 2208,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000882019.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552078.1",
"strand": false,
"transcript": "ENST00000882019.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936390.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606449.1",
"strand": false,
"transcript": "ENST00000936390.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1562,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000936391.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606450.1",
"strand": false,
"transcript": "ENST00000936391.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964393.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634452.1",
"strand": false,
"transcript": "ENST00000964393.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 972,
"cds_start": 533,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000964394.1",
"gene_hgnc_id": 23493,
"gene_symbol": "CALHM2",
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634453.1",
"strand": false,
"transcript": "ENST00000964394.1",
"transcript_support_level": null
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