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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: 8-60856859-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60856859&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 60856859,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_017780.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7579A>C",
"hgvs_p": "p.Met2527Leu",
"transcript": "NM_017780.4",
"protein_id": "NP_060250.2",
"transcript_support_level": null,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7579,
"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": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7579A>C",
"hgvs_p": "p.Met2527Leu",
"transcript": "ENST00000423902.7",
"protein_id": "ENSP00000392028.1",
"transcript_support_level": 5,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7579,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.1717-5370A>C",
"hgvs_p": null,
"transcript": "ENST00000524602.5",
"protein_id": "ENSP00000437061.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7612A>C",
"hgvs_p": "p.Met2538Leu",
"transcript": "ENST00000933299.1",
"protein_id": "ENSP00000603358.1",
"transcript_support_level": null,
"aa_start": 2538,
"aa_end": null,
"aa_length": 3008,
"cds_start": 7612,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7579A>C",
"hgvs_p": "p.Met2527Leu",
"transcript": "ENST00000933300.1",
"protein_id": "ENSP00000603359.1",
"transcript_support_level": null,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2997,
"cds_start": 7579,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7579A>C",
"hgvs_p": "p.Met2527Leu",
"transcript": "ENST00000933298.1",
"protein_id": "ENSP00000603357.1",
"transcript_support_level": null,
"aa_start": 2527,
"aa_end": null,
"aa_length": 2986,
"cds_start": 7579,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7669A>C",
"hgvs_p": "p.Met2557Leu",
"transcript": "XM_011517553.3",
"protein_id": "XP_011515855.1",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 3027,
"cds_start": 7669,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7669A>C",
"hgvs_p": "p.Met2557Leu",
"transcript": "XM_011517554.4",
"protein_id": "XP_011515856.1",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 3027,
"cds_start": 7669,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7669A>C",
"hgvs_p": "p.Met2557Leu",
"transcript": "XM_017013612.2",
"protein_id": "XP_016869101.1",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 3027,
"cds_start": 7669,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7666A>C",
"hgvs_p": "p.Met2556Leu",
"transcript": "XM_011517555.3",
"protein_id": "XP_011515857.1",
"transcript_support_level": null,
"aa_start": 2556,
"aa_end": null,
"aa_length": 3026,
"cds_start": 7666,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7576A>C",
"hgvs_p": "p.Met2526Leu",
"transcript": "XM_017013613.2",
"protein_id": "XP_016869102.1",
"transcript_support_level": null,
"aa_start": 2526,
"aa_end": null,
"aa_length": 2996,
"cds_start": 7576,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7669A>C",
"hgvs_p": "p.Met2557Leu",
"transcript": "XM_047421945.1",
"protein_id": "XP_047277901.1",
"transcript_support_level": null,
"aa_start": 2557,
"aa_end": null,
"aa_length": 2953,
"cds_start": 7669,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7666A>C",
"hgvs_p": "p.Met2556Leu",
"transcript": "XM_047421946.1",
"protein_id": "XP_047277902.1",
"transcript_support_level": null,
"aa_start": 2556,
"aa_end": null,
"aa_length": 2952,
"cds_start": 7666,
"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": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.7576A>C",
"hgvs_p": "p.Met2526Leu",
"transcript": "XM_047421947.1",
"protein_id": "XP_047277903.1",
"transcript_support_level": null,
"aa_start": 2526,
"aa_end": null,
"aa_length": 2922,
"cds_start": 7576,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "c.1717-5370A>C",
"hgvs_p": null,
"transcript": "NM_001316690.1",
"protein_id": "NP_001303619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.760A>C",
"hgvs_p": null,
"transcript": "ENST00000529472.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000529472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.3A>C",
"hgvs_p": null,
"transcript": "ENST00000531695.1",
"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": "ENST00000531695.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.755A>C",
"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": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*638A>C",
"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": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"hgvs_c": "n.*638A>C",
"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"
}
],
"gene_symbol": "CHD7",
"gene_hgnc_id": 20626,
"dbsnp": "rs192129249",
"frequency_reference_population": 0.0042752177,
"hom_count_reference_population": 23,
"allele_count_reference_population": 6696,
"gnomad_exomes_af": 0.00445855,
"gnomad_genomes_af": 0.0025735,
"gnomad_exomes_ac": 6304,
"gnomad_genomes_ac": 392,
"gnomad_exomes_homalt": 23,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011278271675109863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.1015,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.928,
"phylop100way_prediction": "Uncertain_significance",
"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.7579A>C",
"hgvs_p": "p.Met2527Leu"
}
],
"clinvar_disease": "Amenorrhea,CHARGE syndrome,CHD7-related disorder,Hypogonadotropic hypogonadism 5 with or without anosmia,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:7 B:6",
"phenotype_combined": "CHARGE syndrome|not specified|not provided|Inborn genetic diseases|CHARGE syndrome;Hypogonadotropic hypogonadism 5 with or without anosmia|Amenorrhea|CHD7-related disorder|Hypogonadotropic hypogonadism 5 with or without anosmia",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}