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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: 16-2037561-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2037561&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2037561,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000424542.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "NM_001130012.3",
"protein_id": "NP_001123484.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 337,
"cds_start": 816,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000424542.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "ENST00000424542.7",
"protein_id": "ENSP00000408005.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 337,
"cds_start": 816,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_001130012.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "ENST00000432365.6",
"protein_id": "ENSP00000402857.2",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 326,
"cds_start": 816,
"cds_end": null,
"cds_length": 981,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "NM_004785.6",
"protein_id": "NP_004776.3",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 326,
"cds_start": 816,
"cds_end": null,
"cds_length": 981,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ser166Ser",
"transcript": "ENST00000563587.5",
"protein_id": "ENSP00000455909.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 498,
"cds_end": null,
"cds_length": 696,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"transcript": "NM_001252073.2",
"protein_id": "NP_001239002.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 226,
"cds_start": 483,
"cds_end": null,
"cds_length": 681,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"transcript": "ENST00000566198.1",
"protein_id": "ENSP00000456895.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 226,
"cds_start": 483,
"cds_end": null,
"cds_length": 681,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"transcript": "NM_001252075.2",
"protein_id": "NP_001239004.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 224,
"cds_start": 477,
"cds_end": null,
"cds_length": 675,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"transcript": "ENST00000565855.5",
"protein_id": "ENSP00000454690.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 222,
"cds_start": 477,
"cds_end": null,
"cds_length": 671,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"transcript": "NM_001252076.2",
"protein_id": "NP_001239005.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 215,
"cds_start": 483,
"cds_end": null,
"cds_length": 648,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Ser143Ser",
"transcript": "ENST00000561844.5",
"protein_id": "ENSP00000457755.1",
"transcript_support_level": 3,
"aa_start": 143,
"aa_end": null,
"aa_length": 165,
"cds_start": 429,
"cds_end": null,
"cds_length": 498,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser",
"transcript": "XM_047434923.1",
"protein_id": "XP_047290879.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 294,
"cds_start": 816,
"cds_end": null,
"cds_length": 885,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.498G>A",
"hgvs_p": "p.Ser166Ser",
"transcript": "XM_047434924.1",
"protein_id": "XP_047290880.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 498,
"cds_end": null,
"cds_length": 696,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Ser159Ser",
"transcript": "XM_017023894.2",
"protein_id": "XP_016879383.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 213,
"cds_start": 477,
"cds_end": null,
"cds_length": 642,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.411G>A",
"hgvs_p": "p.Ser137Ser",
"transcript": "XM_006720981.2",
"protein_id": "XP_006721044.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 202,
"cds_start": 411,
"cds_end": null,
"cds_length": 609,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.411G>A",
"hgvs_p": "p.Ser137Ser",
"transcript": "XM_024450492.2",
"protein_id": "XP_024306260.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 191,
"cds_start": 411,
"cds_end": null,
"cds_length": 576,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "c.483G>A",
"hgvs_p": "p.Ser161Ser",
"transcript": "XM_005255702.5",
"protein_id": "XP_005255759.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 183,
"cds_start": 483,
"cds_end": null,
"cds_length": 552,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"hgvs_c": "n.745G>A",
"hgvs_p": null,
"transcript": "ENST00000564033.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NHERF2",
"gene_hgnc_id": 11076,
"dbsnp": "rs1132368",
"frequency_reference_population": 0.044065014,
"hom_count_reference_population": 1881,
"allele_count_reference_population": 71038,
"gnomad_exomes_af": 0.0422519,
"gnomad_genomes_af": 0.0614499,
"gnomad_exomes_ac": 61682,
"gnomad_genomes_ac": 9356,
"gnomad_exomes_homalt": 1512,
"gnomad_genomes_homalt": 369,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.084,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000424542.7",
"gene_symbol": "NHERF2",
"hgnc_id": 11076,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ser272Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}