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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: 9-34971602-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34971602&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34971602,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001347982.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "NM_015297.3",
"protein_id": "NP_056112.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 400,
"cds_start": 304,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": "ENST00000242315.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015297.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "ENST00000242315.4",
"protein_id": "ENSP00000242315.3",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 400,
"cds_start": 304,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5757,
"mane_select": "NM_015297.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242315.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "NM_001347982.1",
"protein_id": "NP_001334911.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 401,
"cds_start": 304,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 5854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347982.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "NM_001347983.2",
"protein_id": "NP_001334912.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 401,
"cds_start": 304,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347983.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "ENST00000948628.1",
"protein_id": "ENSP00000618687.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 401,
"cds_start": 304,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948628.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala",
"transcript": "NM_001304333.3",
"protein_id": "NP_001291262.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 400,
"cds_start": 304,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304333.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.517C>G",
"hgvs_p": "p.Pro173Ala",
"transcript": "XM_047423102.1",
"protein_id": "XP_047279058.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 472,
"cds_start": 517,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423102.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.454C>G",
"hgvs_p": "p.Pro152Ala",
"transcript": "XM_047423103.1",
"protein_id": "XP_047279059.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 451,
"cds_start": 454,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423103.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.319C>G",
"hgvs_p": "p.Pro107Ala",
"transcript": "XM_017014553.3",
"protein_id": "XP_016870042.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 406,
"cds_start": 319,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014553.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.319C>G",
"hgvs_p": "p.Pro107Ala",
"transcript": "XM_017014554.2",
"protein_id": "XP_016870043.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 406,
"cds_start": 319,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014554.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.319C>G",
"hgvs_p": "p.Pro107Ala",
"transcript": "XM_017014555.2",
"protein_id": "XP_016870044.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 406,
"cds_start": 319,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 6216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014555.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.319C>G",
"hgvs_p": "p.Pro107Ala",
"transcript": "XM_017014556.2",
"protein_id": "XP_016870045.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 406,
"cds_start": 319,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014556.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.54C>G",
"hgvs_p": "p.Pro18Pro",
"transcript": "NM_001395369.1",
"protein_id": "NP_001382298.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 296,
"cds_start": 54,
"cds_end": null,
"cds_length": 891,
"cdna_start": 425,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.-41+256C>G",
"hgvs_p": null,
"transcript": "NM_001395370.1",
"protein_id": "NP_001382299.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.-41+256C>G",
"hgvs_p": null,
"transcript": "NM_001395371.1",
"protein_id": "NP_001382300.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395371.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "c.-41+256C>G",
"hgvs_p": null,
"transcript": "NM_001395372.1",
"protein_id": "NP_001382301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 239,
"cds_start": null,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395372.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "n.519C>G",
"hgvs_p": null,
"transcript": "NR_136307.2",
"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": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136307.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "n.425C>G",
"hgvs_p": null,
"transcript": "NR_136308.2",
"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": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136308.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "n.135+256C>G",
"hgvs_p": null,
"transcript": "ENST00000476115.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476115.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"hgvs_c": "n.*85C>G",
"hgvs_p": null,
"transcript": "ENST00000486477.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 313,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486477.1"
}
],
"gene_symbol": "PHF24",
"gene_hgnc_id": 29180,
"dbsnp": "rs746469742",
"frequency_reference_population": 0.000011151974,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109449,
"gnomad_genomes_af": 0.0000131411,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6409286260604858,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.2772,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.444,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001347982.1",
"gene_symbol": "PHF24",
"hgnc_id": 29180,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Pro102Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}