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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: 17-74763436-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74763436&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "NHERF1",
"hgnc_id": 11075,
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_004252.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2540000081062317,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1077,
"cds_start": 673,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004252.5",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262613.10",
"protein_coding": true,
"protein_id": "NP_004243.1",
"strand": true,
"transcript": "NM_004252.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1077,
"cds_start": 673,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000262613.10",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004252.5",
"protein_coding": true,
"protein_id": "ENSP00000262613.5",
"strand": true,
"transcript": "ENST00000262613.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 417,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 891,
"cds_end": null,
"cds_length": 1254,
"cds_start": 673,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851804.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521863.1",
"strand": true,
"transcript": "ENST00000851804.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1086,
"cds_start": 673,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851803.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521862.1",
"strand": true,
"transcript": "ENST00000851803.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 357,
"aa_ref": "E",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1074,
"cds_start": 673,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000851800.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.673G>T",
"hgvs_p": "p.Glu225*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521859.1",
"strand": true,
"transcript": "ENST00000851800.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 347,
"aa_ref": "E",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1044,
"cds_start": 640,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967136.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Glu214*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637195.1",
"strand": true,
"transcript": "ENST00000967136.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 304,
"aa_ref": "E",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 730,
"cds_end": null,
"cds_length": 915,
"cds_start": 511,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851801.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Glu171*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521860.1",
"strand": true,
"transcript": "ENST00000851801.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 202,
"aa_ref": "E",
"aa_start": 69,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1285,
"cdna_start": 241,
"cds_end": null,
"cds_length": 609,
"cds_start": 205,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000413388.2",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.205G>T",
"hgvs_p": "p.Glu69*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464982.1",
"strand": true,
"transcript": "ENST00000413388.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 292,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": null,
"cds_end": null,
"cds_length": 879,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851802.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.647+26G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521861.1",
"strand": true,
"transcript": "ENST00000851802.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 214,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 841,
"cdna_start": null,
"cds_end": null,
"cds_length": 646,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000583369.5",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "c.442-4711G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464321.1",
"strand": true,
"transcript": "ENST00000583369.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000578958.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "n.407G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000578958.1",
"transcript_support_level": 2
},
{
"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": 519,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000581356.1",
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"hgvs_c": "n.7G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464117.1",
"strand": true,
"transcript": "ENST00000581356.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs119486097",
"effect": "stop_gained",
"frequency_reference_population": 6.841574e-7,
"gene_hgnc_id": 11075,
"gene_symbol": "NHERF1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84157e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.625,
"pos": 74763436,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.254,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004252.5"
}
]
}