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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: 8-60865189-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60865189&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 60865189,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017780.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8250T>G",
"hgvs_p": "p.Phe2750Leu",
"transcript": "NM_017780.4",
"protein_id": "NP_060250.2",
"transcript_support_level": null,
"aa_start": 2750,
"aa_end": null,
"aa_length": 2997,
"cds_start": 8250,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000423902.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017780.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8250T>G",
"hgvs_p": "p.Phe2750Leu",
"transcript": "ENST00000423902.7",
"protein_id": "ENSP00000392028.1",
"transcript_support_level": 5,
"aa_start": 2750,
"aa_end": null,
"aa_length": 2997,
"cds_start": 8250,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017780.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423902.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.2103T>G",
"hgvs_p": "p.Phe701Leu",
"transcript": "ENST00000524602.5",
"protein_id": "ENSP00000437061.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 948,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524602.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8283T>G",
"hgvs_p": "p.Phe2761Leu",
"transcript": "ENST00000933299.1",
"protein_id": "ENSP00000603358.1",
"transcript_support_level": null,
"aa_start": 2761,
"aa_end": null,
"aa_length": 3008,
"cds_start": 8283,
"cds_end": null,
"cds_length": 9027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933299.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8250T>G",
"hgvs_p": "p.Phe2750Leu",
"transcript": "ENST00000933300.1",
"protein_id": "ENSP00000603359.1",
"transcript_support_level": null,
"aa_start": 2750,
"aa_end": null,
"aa_length": 2997,
"cds_start": 8250,
"cds_end": null,
"cds_length": 8994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933300.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8217T>G",
"hgvs_p": "p.Phe2739Leu",
"transcript": "ENST00000933298.1",
"protein_id": "ENSP00000603357.1",
"transcript_support_level": null,
"aa_start": 2739,
"aa_end": null,
"aa_length": 2986,
"cds_start": 8217,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933298.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.2103T>G",
"hgvs_p": "p.Phe701Leu",
"transcript": "NM_001316690.1",
"protein_id": "NP_001303619.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 948,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316690.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8340T>G",
"hgvs_p": "p.Phe2780Leu",
"transcript": "XM_011517553.3",
"protein_id": "XP_011515855.1",
"transcript_support_level": null,
"aa_start": 2780,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8340,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517553.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8340T>G",
"hgvs_p": "p.Phe2780Leu",
"transcript": "XM_011517554.4",
"protein_id": "XP_011515856.1",
"transcript_support_level": null,
"aa_start": 2780,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8340,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517554.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8340T>G",
"hgvs_p": "p.Phe2780Leu",
"transcript": "XM_017013612.2",
"protein_id": "XP_016869101.1",
"transcript_support_level": null,
"aa_start": 2780,
"aa_end": null,
"aa_length": 3027,
"cds_start": 8340,
"cds_end": null,
"cds_length": 9084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013612.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8337T>G",
"hgvs_p": "p.Phe2779Leu",
"transcript": "XM_011517555.3",
"protein_id": "XP_011515857.1",
"transcript_support_level": null,
"aa_start": 2779,
"aa_end": null,
"aa_length": 3026,
"cds_start": 8337,
"cds_end": null,
"cds_length": 9081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517555.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8247T>G",
"hgvs_p": "p.Phe2749Leu",
"transcript": "XM_017013613.2",
"protein_id": "XP_016869102.1",
"transcript_support_level": null,
"aa_start": 2749,
"aa_end": null,
"aa_length": 2996,
"cds_start": 8247,
"cds_end": null,
"cds_length": 8991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013613.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8118T>G",
"hgvs_p": "p.Phe2706Leu",
"transcript": "XM_047421945.1",
"protein_id": "XP_047277901.1",
"transcript_support_level": null,
"aa_start": 2706,
"aa_end": null,
"aa_length": 2953,
"cds_start": 8118,
"cds_end": null,
"cds_length": 8862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421945.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8115T>G",
"hgvs_p": "p.Phe2705Leu",
"transcript": "XM_047421946.1",
"protein_id": "XP_047277902.1",
"transcript_support_level": null,
"aa_start": 2705,
"aa_end": null,
"aa_length": 2952,
"cds_start": 8115,
"cds_end": null,
"cds_length": 8859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421946.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.8025T>G",
"hgvs_p": "p.Phe2675Leu",
"transcript": "XM_047421947.1",
"protein_id": "XP_047277903.1",
"transcript_support_level": null,
"aa_start": 2675,
"aa_end": null,
"aa_length": 2922,
"cds_start": 8025,
"cds_end": null,
"cds_length": 8769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.296T>G",
"hgvs_p": null,
"transcript": "ENST00000528280.1",
"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": "ENST00000528280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.1426T>G",
"hgvs_p": null,
"transcript": "ENST00000695850.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000695850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.357T>G",
"hgvs_p": null,
"transcript": "ENST00000695852.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000695852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*1309T>G",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"transcript_support_level": null,
"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": "ENST00000695853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*1309T>G",
"hgvs_p": null,
"transcript": "ENST00000695853.1",
"protein_id": "ENSP00000512218.1",
"transcript_support_level": null,
"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": "ENST00000695853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*56T>G",
"hgvs_p": null,
"transcript": "ENST00000532149.1",
"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": "ENST00000532149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*64T>G",
"hgvs_p": null,
"transcript": "ENST00000618450.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000618450.1"
}
],
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"dbsnp": "rs3750308",
"frequency_reference_population": 0.00023324425,
"hom_count_reference_population": 3,
"allele_count_reference_population": 376,
"gnomad_exomes_af": 0.000239779,
"gnomad_genomes_af": 0.000170644,
"gnomad_exomes_ac": 350,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009622782468795776,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.8512,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.04,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_017780.4",
"gene_symbol": "CHD7",
"hgnc_id": 20626,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.8250T>G",
"hgvs_p": "p.Phe2750Leu"
}
],
"clinvar_disease": "CHARGE syndrome,CHD7-related disorder,Hypogonadotropic hypogonadism 5 with or without anosmia,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "CHARGE syndrome|Hypogonadotropic hypogonadism 5 with or without anosmia|CHD7-related disorder|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}