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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: 4-76325976-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=76325976&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 76325976,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001394954.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "NM_001394954.1",
"protein_id": "NP_001381883.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "ENST00000682701.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394954.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "ENST00000682701.1",
"protein_id": "ENSP00000507278.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 3778,
"mane_select": "NM_001394954.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "n.2916A>G",
"hgvs_p": null,
"transcript": "ENST00000504667.2",
"protein_id": null,
"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": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000504667.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3038A>G",
"hgvs_p": "p.Asn1013Ser",
"transcript": "NM_001042784.1",
"protein_id": "NP_001036249.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042784.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3038A>G",
"hgvs_p": "p.Asn1013Ser",
"transcript": "ENST00000388914.7",
"protein_id": "ENSP00000373566.2",
"transcript_support_level": 5,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388914.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531908.3",
"protein_id": "XP_011530210.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 3882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531908.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531909.3",
"protein_id": "XP_011530211.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 3827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531909.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531910.4",
"protein_id": "XP_011530212.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531910.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531911.2",
"protein_id": "XP_011530213.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531911.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531912.3",
"protein_id": "XP_011530214.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 3624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531912.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531913.1",
"protein_id": "XP_011530215.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3218,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531913.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_011531914.3",
"protein_id": "XP_011530216.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531914.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser",
"transcript": "XM_017008160.2",
"protein_id": "XP_016863649.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3050,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008160.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.3038A>G",
"hgvs_p": "p.Asn1013Ser",
"transcript": "XM_005262974.5",
"protein_id": "XP_005263031.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3038,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262974.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.2897A>G",
"hgvs_p": "p.Asn966Ser",
"transcript": "XM_011531915.3",
"protein_id": "XP_011530217.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2897,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531915.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"hgvs_c": "c.2804A>G",
"hgvs_p": "p.Asn935Ser",
"transcript": "XM_011531917.2",
"protein_id": "XP_011530219.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2804,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531917.2"
}
],
"gene_symbol": "CCDC158",
"gene_hgnc_id": 26374,
"dbsnp": "rs201687534",
"frequency_reference_population": 0.00003657336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000390179,
"gnomad_genomes_af": 0.0000131296,
"gnomad_exomes_ac": 57,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.019807130098342896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0544,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.365,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001394954.1",
"gene_symbol": "CCDC158",
"hgnc_id": 26374,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3050A>G",
"hgvs_p": "p.Asn1017Ser"
}
],
"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
}