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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: 22-44913927-GGG-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44913927&ref=GGG&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PHF21B",
"hgnc_id": 25161,
"hgvs_c": "c.724_726delCCCinsTTA",
"hgvs_p": "p.Pro242Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_138415.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1596,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138415.5",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.724_726delCCCinsTTA",
"hgvs_p": "p.Pro242Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000313237.10",
"protein_coding": true,
"protein_id": "NP_612424.1",
"strand": false,
"transcript": "NM_138415.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 531,
"aa_ref": "P",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1596,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000313237.10",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.724_726delCCCinsTTA",
"hgvs_p": "p.Pro242Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138415.5",
"protein_coding": true,
"protein_id": "ENSP00000324403.5",
"strand": false,
"transcript": "ENST00000313237.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1470,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000629843.3",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.598_600delCCCinsTTA",
"hgvs_p": "p.Pro200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487086.1",
"strand": false,
"transcript": "ENST00000629843.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 783,
"cds_end": null,
"cds_length": 1470,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001135862.3",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.598_600delCCCinsTTA",
"hgvs_p": "p.Pro200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129334.1",
"strand": false,
"transcript": "NM_001135862.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1470,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413063.1",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.598_600delCCCinsTTA",
"hgvs_p": "p.Pro200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399992.1",
"strand": false,
"transcript": "NM_001413063.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1434,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242450.2",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.562_564delCCCinsTTA",
"hgvs_p": "p.Pro188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229379.1",
"strand": false,
"transcript": "NM_001242450.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 477,
"aa_ref": "P",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1434,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420689.2",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.562_564delCCCinsTTA",
"hgvs_p": "p.Pro188Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401294.2",
"strand": false,
"transcript": "ENST00000420689.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 403,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3609,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 1212,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000924685.1",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.598_600delCCCinsTTA",
"hgvs_p": "p.Pro200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594744.1",
"strand": false,
"transcript": "ENST00000924685.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 702,
"cds_end": null,
"cds_length": 984,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001284296.2",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.112_114delCCCinsTTA",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271225.1",
"strand": false,
"transcript": "NM_001284296.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 258,
"cds_end": null,
"cds_length": 984,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414269.2",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.112_114delCCCinsTTA",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401091.2",
"strand": false,
"transcript": "ENST00000414269.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1020,
"cds_start": 598,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011529855.2",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.598_600delCCCinsTTA",
"hgvs_p": "p.Pro200Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528157.1",
"strand": false,
"transcript": "XM_011529855.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 707,
"cds_end": null,
"cds_length": 984,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441109.1",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.112_114delCCCinsTTA",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297065.1",
"strand": false,
"transcript": "XM_047441109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20800,
"cdna_start": 18006,
"cds_end": null,
"cds_length": 984,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047441110.1",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "c.112_114delCCCinsTTA",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047297066.1",
"strand": false,
"transcript": "XM_047441110.1",
"transcript_support_level": null
},
{
"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": 3586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000403565.6",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "n.*380_*382delCCCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000385053.2",
"strand": false,
"transcript": "ENST00000403565.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NR_134535.1",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "n.659_661delCCCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_134535.1",
"transcript_support_level": null
},
{
"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": 3586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000403565.6",
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"hgvs_c": "n.*380_*382delCCCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000385053.2",
"strand": false,
"transcript": "ENST00000403565.6",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25161,
"gene_symbol": "PHF21B",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 5.737,
"pos": 44913927,
"ref": "GGG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_138415.5"
}
]
}