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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: 8-60852941-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60852941&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CHD7",
"hgnc_id": 20626,
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_017780.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1233,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "CHARGE syndrome,CHD7-related disorder,Hypogonadotropic hypogonadism 5 with or without anosmia,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6700000166893005,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11606,
"cdna_start": 6733,
"cds_end": null,
"cds_length": 8994,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_017780.4",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423902.7",
"protein_coding": true,
"protein_id": "NP_060250.2",
"strand": true,
"transcript": "NM_017780.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11606,
"cdna_start": 6733,
"cds_end": null,
"cds_length": 8994,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000423902.7",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017780.4",
"protein_coding": true,
"protein_id": "ENSP00000392028.1",
"strand": true,
"transcript": "ENST00000423902.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524602.5",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.1717-9288C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437061.1",
"strand": true,
"transcript": "ENST00000524602.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3008,
"aa_ref": "P",
"aa_start": 2084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10464,
"cdna_start": 6726,
"cds_end": null,
"cds_length": 9027,
"cds_start": 6252,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000933299.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6252C>G",
"hgvs_p": "p.Pro2084Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603358.1",
"strand": true,
"transcript": "ENST00000933299.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10294,
"cdna_start": 6560,
"cds_end": null,
"cds_length": 8994,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000933300.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603359.1",
"strand": true,
"transcript": "ENST00000933300.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10433,
"cdna_start": 6690,
"cds_end": null,
"cds_length": 8961,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000933298.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603357.1",
"strand": true,
"transcript": "ENST00000933298.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11696,
"cdna_start": 6823,
"cds_end": null,
"cds_length": 9084,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_011517553.3",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515855.1",
"strand": true,
"transcript": "XM_011517553.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11650,
"cdna_start": 6777,
"cds_end": null,
"cds_length": 9084,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_011517554.4",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515856.1",
"strand": true,
"transcript": "XM_011517554.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11711,
"cdna_start": 6838,
"cds_end": null,
"cds_length": 9084,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_017013612.2",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869101.1",
"strand": true,
"transcript": "XM_017013612.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 3026,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11693,
"cdna_start": 6823,
"cds_end": null,
"cds_length": 9081,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_011517555.3",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515857.1",
"strand": true,
"transcript": "XM_011517555.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2996,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11603,
"cdna_start": 6733,
"cds_end": null,
"cds_length": 8991,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017013613.2",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869102.1",
"strand": true,
"transcript": "XM_017013613.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2953,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11474,
"cdna_start": 6823,
"cds_end": null,
"cds_length": 8862,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047421945.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277901.1",
"strand": true,
"transcript": "XM_047421945.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2952,
"aa_ref": "P",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11471,
"cdna_start": 6823,
"cds_end": null,
"cds_length": 8859,
"cds_start": 6306,
"consequences": [
"synonymous_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047421946.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6306C>G",
"hgvs_p": "p.Pro2102Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277902.1",
"strand": true,
"transcript": "XM_047421946.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 2922,
"aa_ref": "P",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11381,
"cdna_start": 6733,
"cds_end": null,
"cds_length": 8769,
"cds_start": 6216,
"consequences": [
"synonymous_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047421947.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.6216C>G",
"hgvs_p": "p.Pro2072Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277903.1",
"strand": true,
"transcript": "XM_047421947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001316690.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.1717-9288C>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303619.1",
"strand": true,
"transcript": "NM_001316690.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 37,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000695853.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.6216C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512218.1",
"strand": true,
"transcript": "ENST00000695853.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199828744",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0007639642,
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"gnomad_exomes_ac": 1177,
"gnomad_exomes_af": 0.000805221,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_ac": 56,
"gnomad_genomes_af": 0.00036784,
"gnomad_genomes_homalt": 1,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 3,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "not provided|Hypogonadotropic hypogonadism 5 with or without anosmia|Inborn genetic diseases|CHARGE syndrome|CHD7-related disorder|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.827,
"pos": 60852941,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017780.4"
}
]
}