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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: 16-66608342-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66608342&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66608342,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_144601.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "NM_181553.4",
"protein_id": "NP_853531.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000567572.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181553.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000567572.6",
"protein_id": "ENSP00000455851.1",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181553.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567572.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000361909.8",
"protein_id": "ENSP00000354579.4",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361909.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.124+3413G>C",
"hgvs_p": null,
"transcript": "ENST00000565922.1",
"protein_id": "ENSP00000456426.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565922.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "NM_001363918.2",
"protein_id": "NP_001350847.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363918.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "NM_001363923.2",
"protein_id": "NP_001350852.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363923.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "NM_144601.5",
"protein_id": "NP_653202.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144601.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000424011.6",
"protein_id": "ENSP00000400482.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424011.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000562707.5",
"protein_id": "ENSP00000455758.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562707.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000885751.1",
"protein_id": "ENSP00000555810.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885751.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000885752.1",
"protein_id": "ENSP00000555811.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885752.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000885753.1",
"protein_id": "ENSP00000555812.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885753.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000967212.1",
"protein_id": "ENSP00000637271.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967212.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000967213.1",
"protein_id": "ENSP00000637272.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967213.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000967214.1",
"protein_id": "ENSP00000637273.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967214.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000918764.1",
"protein_id": "ENSP00000588823.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 181,
"cds_start": 181,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918764.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000564060.5",
"protein_id": "ENSP00000457589.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 150,
"cds_start": 181,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564060.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000918765.1",
"protein_id": "ENSP00000588824.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 149,
"cds_start": 181,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918765.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000562357.5",
"protein_id": "ENSP00000454628.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 121,
"cds_start": 181,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562357.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "ENST00000563672.5",
"protein_id": "ENSP00000457451.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 115,
"cds_start": 181,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563672.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "XM_047433594.1",
"protein_id": "XP_047289550.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 182,
"cds_start": 181,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433594.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMTM3",
"gene_hgnc_id": 19174,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Ala61Pro",
"transcript": "XM_047433595.1",
"protein_id": "XP_047289551.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 165,
"cds_start": 181,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433595.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144601.5",
"gene_symbol": "CMTM3",
"hgnc_id": 19174,
"effects": [
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],
"inheritance_mode": "AR",
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},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
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"gene_symbol": "CMTM4",
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"effects": [
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}