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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: 15-43698687-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43698687&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43698687,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001321927.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "NM_001321926.2",
"protein_id": "NP_001308855.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000413453.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321926.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000413453.7",
"protein_id": "ENSP00000406577.3",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321926.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413453.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "NM_001321927.1",
"protein_id": "NP_001308856.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321927.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "NM_001321928.1",
"protein_id": "NP_001308857.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321928.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "ENST00000909070.1",
"protein_id": "ENSP00000579129.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909070.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "ENST00000909071.1",
"protein_id": "ENSP00000579130.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909071.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1151G>C",
"hgvs_p": "p.Arg384Pro",
"transcript": "ENST00000945385.1",
"protein_id": "ENSP00000615444.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 448,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945385.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1076G>C",
"hgvs_p": "p.Arg359Pro",
"transcript": "ENST00000932399.1",
"protein_id": "ENSP00000602458.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 423,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932399.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "NM_001015001.2",
"protein_id": "NP_001015001.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001015001.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000434505.5",
"protein_id": "ENSP00000413165.1",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434505.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909068.1",
"protein_id": "ENSP00000579127.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909068.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909069.1",
"protein_id": "ENSP00000579128.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909069.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909073.1",
"protein_id": "ENSP00000579132.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909073.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909074.1",
"protein_id": "ENSP00000579133.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909074.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909075.1",
"protein_id": "ENSP00000579134.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909075.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000932397.1",
"protein_id": "ENSP00000602456.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 417,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932397.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Arg353Pro",
"transcript": "ENST00000909072.1",
"protein_id": "ENSP00000579131.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 415,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909072.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.1013G>C",
"hgvs_p": "p.Arg338Pro",
"transcript": "ENST00000945384.1",
"protein_id": "ENSP00000615443.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 402,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945384.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "ENST00000909067.1",
"protein_id": "ENSP00000579126.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 372,
"cds_start": 923,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909067.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.923G>C",
"hgvs_p": "p.Arg308Pro",
"transcript": "ENST00000932396.1",
"protein_id": "ENSP00000602455.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 372,
"cds_start": 923,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932396.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.836G>C",
"hgvs_p": "p.Arg279Pro",
"transcript": "ENST00000932398.1",
"protein_id": "ENSP00000602457.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 343,
"cds_start": 836,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932398.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKMT1A",
"gene_hgnc_id": 31736,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "ENST00000909076.1",
"protein_id": "ENSP00000579135.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 304,
"cds_start": 719,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.9759429693222046,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.592,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "NM_001321927.1",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}