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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: 12-69257848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69257848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69257848,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300947.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "NM_007007.3",
"protein_id": "NP_008938.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 551,
"cds_start": 637,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435070.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007007.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000435070.7",
"protein_id": "ENSP00000391774.2",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 551,
"cds_start": 637,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007007.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435070.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000266679.8",
"protein_id": "ENSP00000266679.8",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 588,
"cds_start": 637,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266679.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Gly225Ser",
"transcript": "ENST00000886662.1",
"protein_id": "ENSP00000556721.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 600,
"cds_start": 673,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886662.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Gly220Ser",
"transcript": "ENST00000927159.1",
"protein_id": "ENSP00000597218.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 595,
"cds_start": 658,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927159.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927168.1",
"protein_id": "ENSP00000597227.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 595,
"cds_start": 637,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927168.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000886658.1",
"protein_id": "ENSP00000556717.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 589,
"cds_start": 637,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886658.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927154.1",
"protein_id": "ENSP00000597213.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 589,
"cds_start": 637,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927154.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927156.1",
"protein_id": "ENSP00000597215.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 589,
"cds_start": 637,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927156.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000941459.1",
"protein_id": "ENSP00000611518.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 589,
"cds_start": 637,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941459.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "NM_001300947.2",
"protein_id": "NP_001287876.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 588,
"cds_start": 637,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300947.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000886666.1",
"protein_id": "ENSP00000556725.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 588,
"cds_start": 637,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886666.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Gly225Ser",
"transcript": "ENST00000941457.1",
"protein_id": "ENSP00000611516.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 563,
"cds_start": 673,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941457.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927167.1",
"protein_id": "ENSP00000597226.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 558,
"cds_start": 637,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927167.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.655G>A",
"hgvs_p": "p.Gly219Ser",
"transcript": "ENST00000886661.1",
"protein_id": "ENSP00000556720.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 557,
"cds_start": 655,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886661.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000886657.1",
"protein_id": "ENSP00000556716.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886657.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000886663.1",
"protein_id": "ENSP00000556722.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886663.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927157.1",
"protein_id": "ENSP00000597216.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927157.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000927164.1",
"protein_id": "ENSP00000597223.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927164.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000941456.1",
"protein_id": "ENSP00000611515.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941456.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000941458.1",
"protein_id": "ENSP00000611517.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 552,
"cds_start": 637,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941458.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser",
"transcript": "ENST00000886656.1",
"protein_id": "ENSP00000556715.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 551,
"cds_start": 637,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "ENST00000650046.1"
}
],
"gene_symbol": "CPSF6",
"gene_hgnc_id": 13871,
"dbsnp": "rs200906163",
"frequency_reference_population": 0.000011177333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102871,
"gnomad_genomes_af": 0.0000197029,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23495745658874512,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.414,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001300947.2",
"gene_symbol": "CPSF6",
"hgnc_id": 13871,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Ser"
}
],
"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
}