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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: 1-153948215-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153948215&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 153948215,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_181715.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "NM_181715.3",
"protein_id": "NP_859066.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 693,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368633.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181715.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His",
"transcript": "ENST00000368633.2",
"protein_id": "ENSP00000357622.1",
"transcript_support_level": 1,
"aa_start": 659,
"aa_end": null,
"aa_length": 693,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_181715.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368633.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "n.*357G>A",
"hgvs_p": null,
"transcript": "ENST00000461638.6",
"protein_id": "ENSP00000434115.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461638.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "n.*357G>A",
"hgvs_p": null,
"transcript": "ENST00000461638.6",
"protein_id": "ENSP00000434115.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461638.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Arg664His",
"transcript": "ENST00000870599.1",
"protein_id": "ENSP00000540658.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 698,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870599.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650His",
"transcript": "ENST00000917166.1",
"protein_id": "ENSP00000587225.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 684,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917166.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1949G>A",
"hgvs_p": "p.Arg650His",
"transcript": "ENST00000956360.1",
"protein_id": "ENSP00000626419.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 684,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956360.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1922G>A",
"hgvs_p": "p.Arg641His",
"transcript": "ENST00000917169.1",
"protein_id": "ENSP00000587228.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 675,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917169.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Arg630His",
"transcript": "ENST00000956358.1",
"protein_id": "ENSP00000626417.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 664,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956358.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1616G>A",
"hgvs_p": "p.Arg539His",
"transcript": "ENST00000917167.1",
"protein_id": "ENSP00000587226.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 573,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Arg477His",
"transcript": "ENST00000956359.1",
"protein_id": "ENSP00000626418.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 511,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956359.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Arg469His",
"transcript": "ENST00000917168.1",
"protein_id": "ENSP00000587227.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 503,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917168.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1016G>A",
"hgvs_p": "p.Arg339His",
"transcript": "ENST00000368630.7",
"protein_id": "ENSP00000357619.3",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 373,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368630.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Arg664His",
"transcript": "XM_005244946.2",
"protein_id": "XP_005245003.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 698,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005244946.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1757G>A",
"hgvs_p": "p.Arg586His",
"transcript": "XM_017000575.1",
"protein_id": "XP_016856064.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 620,
"cds_start": 1757,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000575.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1742G>A",
"hgvs_p": "p.Arg581His",
"transcript": "XM_017000576.1",
"protein_id": "XP_016856065.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 615,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000576.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563His",
"transcript": "XM_017000577.2",
"protein_id": "XP_016856066.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 597,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000577.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"transcript": "XM_017000579.2",
"protein_id": "XP_016856068.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 487,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000579.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "n.*1461G>A",
"hgvs_p": null,
"transcript": "ENST00000303569.10",
"protein_id": "ENSP00000305873.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000303569.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "n.1726G>A",
"hgvs_p": null,
"transcript": "ENST00000487235.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"hgvs_c": "n.*1461G>A",
"hgvs_p": null,
"transcript": "ENST00000303569.10",
"protein_id": "ENSP00000305873.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000303569.10"
}
],
"gene_symbol": "CRTC2",
"gene_hgnc_id": 27301,
"dbsnp": "rs551248341",
"frequency_reference_population": 0.000064426444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000629326,
"gnomad_genomes_af": 0.0000787598,
"gnomad_exomes_ac": 92,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008755683898925781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.077,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_181715.3",
"gene_symbol": "CRTC2",
"hgnc_id": 27301,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1976G>A",
"hgvs_p": "p.Arg659His"
}
],
"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
}