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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: 16-66604887-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66604887&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": "CMTM3",
"hgnc_id": 19174,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_144601.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CMTM4",
"hgnc_id": 19175,
"hgvs_c": "n.842-6047G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "XR_933209.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.3645,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "16",
"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": 0.35241463780403137,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 184,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_181553.4",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000567572.6",
"protein_coding": true,
"protein_id": "NP_853531.1",
"strand": true,
"transcript": "NM_181553.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 184,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000567572.6",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181553.4",
"protein_coding": true,
"protein_id": "ENSP00000455851.1",
"strand": true,
"transcript": "ENST00000567572.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 437,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000361909.8",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354579.4",
"strand": true,
"transcript": "ENST00000361909.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 59,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": 156,
"cds_end": null,
"cds_length": 180,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000565922.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456426.1",
"strand": true,
"transcript": "ENST00000565922.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 611,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363918.2",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350847.1",
"strand": true,
"transcript": "NM_001363918.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 644,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001363923.2",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350852.1",
"strand": true,
"transcript": "NM_001363923.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 717,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_144601.5",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653202.1",
"strand": true,
"transcript": "NM_144601.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 608,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000424011.6",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400482.2",
"strand": true,
"transcript": "ENST00000424011.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 183,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562707.5",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455758.1",
"strand": true,
"transcript": "ENST00000562707.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 207,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000885751.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555810.1",
"strand": true,
"transcript": "ENST00000885751.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 356,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000885752.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555811.1",
"strand": true,
"transcript": "ENST00000885752.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 514,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000885753.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555812.1",
"strand": true,
"transcript": "ENST00000885753.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1750,
"cdna_start": 174,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000967212.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637271.1",
"strand": true,
"transcript": "ENST00000967212.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 362,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000967213.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637272.1",
"strand": true,
"transcript": "ENST00000967213.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 182,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 252,
"cds_end": null,
"cds_length": 549,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000967214.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637273.1",
"strand": true,
"transcript": "ENST00000967214.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 181,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 218,
"cds_end": null,
"cds_length": 546,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000918764.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588823.1",
"strand": true,
"transcript": "ENST00000918764.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 150,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 824,
"cdna_start": 156,
"cds_end": null,
"cds_length": 453,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000564060.5",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457589.1",
"strand": true,
"transcript": "ENST00000564060.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 149,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 154,
"cds_end": null,
"cds_length": 450,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000918765.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588824.1",
"strand": true,
"transcript": "ENST00000918765.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 130,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 154,
"cds_end": null,
"cds_length": 393,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000885754.1",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555813.1",
"strand": true,
"transcript": "ENST00000885754.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 121,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 792,
"cdna_start": 507,
"cds_end": null,
"cds_length": 367,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000562357.5",
"gene_hgnc_id": 19174,
"gene_symbol": "CMTM3",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Arg28Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454628.1",
"strand": true,
"transcript": "ENST00000562357.5",
"transcript_support_level": 4
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 115,
"aa_ref": "R",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 460,
"cdna_start": 193,
"cds_end": null,
"cds_length": 349,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 4,
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