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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: 16-2035679-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2035679&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NHERF2",
"hgnc_id": 11076,
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001130012.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 290231,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130012.3",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000424542.7",
"protein_coding": true,
"protein_id": "NP_001123484.1",
"strand": true,
"transcript": "NM_001130012.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": null,
"cds_end": null,
"cds_length": 1014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424542.7",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130012.3",
"protein_coding": true,
"protein_id": "ENSP00000408005.2",
"strand": true,
"transcript": "ENST00000424542.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 326,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": null,
"cds_end": null,
"cds_length": 981,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000432365.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402857.2",
"strand": true,
"transcript": "ENST00000432365.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006720981.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721044.1",
"strand": true,
"transcript": "XM_006720981.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_024450492.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306260.1",
"strand": true,
"transcript": "XM_024450492.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 202,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 609,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006720981.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721044.1",
"strand": true,
"transcript": "XM_006720981.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 191,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": null,
"cds_end": null,
"cds_length": 576,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_024450492.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306260.1",
"strand": true,
"transcript": "XM_024450492.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901526.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571585.1",
"strand": true,
"transcript": "ENST00000901526.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000901525.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571584.1",
"strand": true,
"transcript": "ENST00000901525.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": null,
"cds_end": null,
"cds_length": 981,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004785.6",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_004776.3",
"strand": true,
"transcript": "NM_004785.6",
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},
{
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"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000960133.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-645C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630192.1",
"strand": true,
"transcript": "ENST00000960133.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000960134.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630193.1",
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},
{
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],
"exon_count": 6,
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"feature": "ENST00000901524.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000571583.1",
"strand": true,
"transcript": "ENST00000901524.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000960135.1",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.415-1049C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630194.1",
"strand": true,
"transcript": "ENST00000960135.1",
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},
{
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],
"exon_count": 6,
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"feature": "ENST00000563587.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.97-645C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000455909.1",
"strand": true,
"transcript": "ENST00000563587.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_001252073.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.82-645C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001239002.1",
"strand": true,
"transcript": "NM_001252073.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000566198.1",
"gene_hgnc_id": 11076,
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"protein_id": "ENSP00000456895.1",
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},
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],
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"feature": "NM_001252075.2",
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"strand": true,
"transcript": "NM_001252075.2",
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},
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],
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"feature": "ENST00000565855.5",
"gene_hgnc_id": 11076,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "NM_001252076.2",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.82-645C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001239005.1",
"strand": true,
"transcript": "NM_001252076.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561844.5",
"gene_hgnc_id": 11076,
"gene_symbol": "NHERF2",
"hgvs_c": "c.28-645C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457755.1",
"strand": true,
"transcript": "ENST00000561844.5",
"transcript_support_level": 3
},
{
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