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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: 12-124967167-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=124967167&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 124967167,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032656.4",
"consequences": [
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "NM_032656.4",
"protein_id": "NP_116045.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1460,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308736.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032656.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "ENST00000308736.7",
"protein_id": "ENSP00000311135.2",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 1157,
"cds_start": 1460,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032656.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308736.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310His",
"transcript": "ENST00000544745.2",
"protein_id": "ENSP00000439009.2",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 998,
"cds_start": 929,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544745.2"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1367G>A",
"hgvs_p": "p.Arg456His",
"transcript": "ENST00000880032.1",
"protein_id": "ENSP00000550091.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1126,
"cds_start": 1367,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880032.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "ENST00000921756.1",
"protein_id": "ENSP00000591815.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1460,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921756.1"
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333His",
"transcript": "ENST00000880033.1",
"protein_id": "ENSP00000550092.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 1003,
"cds_start": 998,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880033.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "XM_005253590.4",
"protein_id": "XP_005253647.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1460,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253590.4"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "XM_047429218.1",
"protein_id": "XP_047285174.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1460,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429218.1"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "XM_011538598.3",
"protein_id": "XP_011536900.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 904,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538598.3"
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "XM_011538600.3",
"protein_id": "XP_011536902.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 881,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538600.3"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "n.1532G>A",
"hgvs_p": null,
"transcript": "ENST00000679875.1",
"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": "ENST00000679875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"hgvs_c": "n.-162G>A",
"hgvs_p": null,
"transcript": "ENST00000543962.1",
"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": "retained_intron",
"feature": "ENST00000543962.1"
}
],
"gene_symbol": "DHX37",
"gene_hgnc_id": 17210,
"dbsnp": "rs779613772",
"frequency_reference_population": 0.000045238998,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.000044477,
"gnomad_genomes_af": 0.0000525548,
"gnomad_exomes_ac": 65,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31768038868904114,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.796,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5,BP4",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 1,
"pathogenic_score": 1,
"criteria": [
"PP5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032656.4",
"gene_symbol": "DHX37",
"hgnc_id": 17210,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His"
}
],
"clinvar_disease": "46,Abnormal brain morphology,Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies,XY sex reversal 11,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "Abnormal brain morphology|46,XY sex reversal 11|not provided|Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}