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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: 11-74696574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74696574&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 74696574,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015424.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Val409Ile",
"transcript": "NM_001278473.3",
"protein_id": "NP_001265402.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 429,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376332.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278473.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"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": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Val409Ile",
"transcript": "ENST00000376332.8",
"protein_id": "ENSP00000365510.3",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 429,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278473.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376332.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "ENST00000263671.9",
"protein_id": "ENSP00000263671.5",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 451,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263671.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "n.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000376324.7",
"protein_id": "ENSP00000365502.3",
"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": "ENST00000376324.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "n.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000376324.7",
"protein_id": "ENSP00000365502.3",
"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": "ENST00000376324.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "NM_015424.6",
"protein_id": "NP_056239.3",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 451,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015424.6"
},
{
"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": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "NM_001304390.2",
"protein_id": "NP_001291319.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 431,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304390.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362His",
"transcript": "NM_001304417.2",
"protein_id": "NP_001291346.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 386,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304417.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342His",
"transcript": "NM_001304391.2",
"protein_id": "NP_001291320.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 366,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304391.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.970G>A",
"hgvs_p": "p.Val324Ile",
"transcript": "NM_001304415.2",
"protein_id": "NP_001291344.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 344,
"cds_start": 970,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304415.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Val293Ile",
"transcript": "NM_001304416.2",
"protein_id": "NP_001291345.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 313,
"cds_start": 877,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304416.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000529912.5",
"protein_id": "ENSP00000432345.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 90,
"cds_start": 197,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529912.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Thr174Thr",
"transcript": "ENST00000525413.5",
"protein_id": "ENSP00000434257.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 176,
"cds_start": 522,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525413.5"
}
],
"gene_symbol": "CHRDL2",
"gene_hgnc_id": 24168,
"dbsnp": "rs149731074",
"frequency_reference_population": 0.0000075269154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752692,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05065244436264038,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": 0.0705,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.319,
"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": -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_015424.6",
"gene_symbol": "CHRDL2",
"hgnc_id": 24168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His"
}
],
"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
}