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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: 15-78548878-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78548878&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78548878,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000044462.12",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln",
"transcript": "NM_002789.6",
"protein_id": "NP_002780.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 261,
"cds_start": 720,
"cds_end": null,
"cds_length": 786,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": "ENST00000044462.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln",
"transcript": "ENST00000044462.12",
"protein_id": "ENSP00000044462.7",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 261,
"cds_start": 720,
"cds_end": null,
"cds_length": 786,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": "NM_002789.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.507T>G",
"hgvs_p": "p.His169Gln",
"transcript": "ENST00000413382.6",
"protein_id": "ENSP00000402118.2",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 190,
"cds_start": 507,
"cds_end": null,
"cds_length": 573,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1019,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "n.2713T>G",
"hgvs_p": null,
"transcript": "ENST00000559934.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.376T>G",
"hgvs_p": "p.Ter126Glyext*?",
"transcript": "ENST00000558341.5",
"protein_id": "ENSP00000453323.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 125,
"cds_start": 376,
"cds_end": null,
"cds_length": 378,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln",
"transcript": "NM_001102667.2",
"protein_id": "NP_001096137.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 261,
"cds_start": 720,
"cds_end": null,
"cds_length": 786,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln",
"transcript": "NM_001330676.2",
"protein_id": "NP_001317605.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 261,
"cds_start": 720,
"cds_end": null,
"cds_length": 786,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln",
"transcript": "ENST00000559082.5",
"protein_id": "ENSP00000453887.1",
"transcript_support_level": 5,
"aa_start": 240,
"aa_end": null,
"aa_length": 261,
"cds_start": 720,
"cds_end": null,
"cds_length": 786,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.627T>G",
"hgvs_p": "p.His209Gln",
"transcript": "NM_001330675.2",
"protein_id": "NP_001317604.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 230,
"cds_start": 627,
"cds_end": null,
"cds_length": 693,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.627T>G",
"hgvs_p": "p.His209Gln",
"transcript": "ENST00000560217.5",
"protein_id": "ENSP00000453829.1",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 230,
"cds_start": 627,
"cds_end": null,
"cds_length": 693,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.507T>G",
"hgvs_p": "p.His169Gln",
"transcript": "NM_001102668.3",
"protein_id": "NP_001096138.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 190,
"cds_start": 507,
"cds_end": null,
"cds_length": 573,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 4215,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "n.2270T>G",
"hgvs_p": null,
"transcript": "ENST00000560099.5",
"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": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.*71T>G",
"hgvs_p": null,
"transcript": "NM_001330673.2",
"protein_id": "NP_001317602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.*71T>G",
"hgvs_p": null,
"transcript": "ENST00000558281.5",
"protein_id": "ENSP00000453145.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.*71T>G",
"hgvs_p": null,
"transcript": "ENST00000558094.1",
"protein_id": "ENSP00000453758.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.*10T>G",
"hgvs_p": null,
"transcript": "ENST00000560737.5",
"protein_id": "ENSP00000453080.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"hgvs_c": "c.*58T>G",
"hgvs_p": null,
"transcript": "ENST00000559365.5",
"protein_id": "ENSP00000453802.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSMA4",
"gene_hgnc_id": 9533,
"dbsnp": "rs8053",
"frequency_reference_population": 6.847205e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8472e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21379128098487854,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.281,
"revel_prediction": "Benign",
"alphamissense_score": 0.3234,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.576,
"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": "ENST00000044462.12",
"gene_symbol": "PSMA4",
"hgnc_id": 9533,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.720T>G",
"hgvs_p": "p.His240Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}