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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: 17-67347395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67347395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67347395,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_002816.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "NM_002816.5",
"protein_id": "NP_002807.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 456,
"cds_start": 601,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356126.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002816.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000356126.8",
"protein_id": "ENSP00000348442.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 456,
"cds_start": 601,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002816.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356126.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "n.*756C>T",
"hgvs_p": null,
"transcript": "ENST00000584008.5",
"protein_id": "ENSP00000462525.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584008.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "n.650C>T",
"hgvs_p": null,
"transcript": "ENST00000584289.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000584289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "n.*756C>T",
"hgvs_p": null,
"transcript": "ENST00000584008.5",
"protein_id": "ENSP00000462525.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584008.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Arg257*",
"transcript": "ENST00000875731.1",
"protein_id": "ENSP00000545790.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 512,
"cds_start": 769,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875731.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000956699.1",
"protein_id": "ENSP00000626758.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 453,
"cds_start": 601,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956699.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000956700.1",
"protein_id": "ENSP00000626759.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 453,
"cds_start": 601,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956700.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181*",
"transcript": "NM_174871.4",
"protein_id": "NP_777360.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 436,
"cds_start": 541,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174871.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Arg181*",
"transcript": "ENST00000357146.4",
"protein_id": "ENSP00000349667.4",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 436,
"cds_start": 541,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357146.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000875730.1",
"protein_id": "ENSP00000545789.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 430,
"cds_start": 601,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875730.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.493C>T",
"hgvs_p": "p.Arg165*",
"transcript": "ENST00000875729.1",
"protein_id": "ENSP00000545788.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 420,
"cds_start": 493,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875729.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158*",
"transcript": "ENST00000956701.1",
"protein_id": "ENSP00000626760.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 413,
"cds_start": 472,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956701.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.424C>T",
"hgvs_p": "p.Arg142*",
"transcript": "NM_001316341.2",
"protein_id": "NP_001303270.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 397,
"cds_start": 424,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316341.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138*",
"transcript": "ENST00000956702.1",
"protein_id": "ENSP00000626761.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 393,
"cds_start": 412,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956702.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000875728.1",
"protein_id": "ENSP00000545787.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 360,
"cds_start": 601,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875728.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "XM_047436440.1",
"protein_id": "XP_047292396.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 316,
"cds_start": 601,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436440.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.511-45C>T",
"hgvs_p": null,
"transcript": "ENST00000875732.1",
"protein_id": "ENSP00000545791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"hgvs_c": "c.511-145C>T",
"hgvs_p": null,
"transcript": "ENST00000956703.1",
"protein_id": "ENSP00000626762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956703.1"
}
],
"gene_symbol": "PSMD12",
"gene_hgnc_id": 9557,
"dbsnp": "rs895130488",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.578,
"phylop100way_prediction": "Pathogenic",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_002816.5",
"gene_symbol": "PSMD12",
"hgnc_id": 9557,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*"
}
],
"clinvar_disease": "Stankiewicz-Isidor syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Stankiewicz-Isidor syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}