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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: 22-44913926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44913926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 44913926,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138415.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "NM_138415.5",
"protein_id": "NP_612424.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 531,
"cds_start": 727,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313237.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138415.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys",
"transcript": "ENST00000313237.10",
"protein_id": "ENSP00000324403.5",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 531,
"cds_start": 727,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138415.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313237.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000629843.3",
"protein_id": "ENSP00000487086.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 489,
"cds_start": 601,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629843.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "NM_001135862.3",
"protein_id": "NP_001129334.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 489,
"cds_start": 601,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135862.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "NM_001413063.1",
"protein_id": "NP_001399992.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 489,
"cds_start": 601,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413063.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "NM_001242450.2",
"protein_id": "NP_001229379.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 477,
"cds_start": 565,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242450.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Glu189Lys",
"transcript": "ENST00000420689.2",
"protein_id": "ENSP00000401294.2",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 477,
"cds_start": 565,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420689.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000924685.1",
"protein_id": "ENSP00000594744.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 403,
"cds_start": 601,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924685.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "NM_001284296.2",
"protein_id": "NP_001271225.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 327,
"cds_start": 115,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284296.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "ENST00000414269.2",
"protein_id": "ENSP00000401091.2",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 327,
"cds_start": 115,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414269.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "XM_011529855.2",
"protein_id": "XP_011528157.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 339,
"cds_start": 601,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529855.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "XM_047441109.1",
"protein_id": "XP_047297065.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 327,
"cds_start": 115,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441109.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "c.115G>A",
"hgvs_p": "p.Glu39Lys",
"transcript": "XM_047441110.1",
"protein_id": "XP_047297066.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 327,
"cds_start": 115,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "n.*383G>A",
"hgvs_p": null,
"transcript": "ENST00000403565.6",
"protein_id": "ENSP00000385053.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000403565.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "n.662G>A",
"hgvs_p": null,
"transcript": "NR_134535.1",
"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": "pseudogene",
"feature": "NR_134535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"hgvs_c": "n.*383G>A",
"hgvs_p": null,
"transcript": "ENST00000403565.6",
"protein_id": "ENSP00000385053.2",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000403565.6"
}
],
"gene_symbol": "PHF21B",
"gene_hgnc_id": 25161,
"dbsnp": "rs368576969",
"frequency_reference_population": 0.00002386228,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000249648,
"gnomad_genomes_af": 0.0000138038,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15395376086235046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0897,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.822,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138415.5",
"gene_symbol": "PHF21B",
"hgnc_id": 25161,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.727G>A",
"hgvs_p": "p.Glu243Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}