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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: 8-65732478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=65732478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 65732478,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000401827.8",
"consequences": [
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.696+2316C>T",
"hgvs_p": null,
"transcript": "NM_001242318.3",
"protein_id": "NP_001229247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": "ENST00000401827.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.696+2316C>T",
"hgvs_p": null,
"transcript": "ENST00000401827.8",
"protein_id": "ENSP00000385632.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": "NM_001242318.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.618+2316C>T",
"hgvs_p": null,
"transcript": "NM_002603.4",
"protein_id": "NP_002594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.618+2316C>T",
"hgvs_p": null,
"transcript": "ENST00000379419.8",
"protein_id": "ENSP00000368730.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.696+2316C>T",
"hgvs_p": null,
"transcript": "ENST00000396642.7",
"protein_id": "ENSP00000379881.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.*48+12997G>A",
"hgvs_p": null,
"transcript": "NM_001413084.1",
"protein_id": "NP_001400013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": -4,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.372+24467G>A",
"hgvs_p": null,
"transcript": "ENST00000527155.5",
"protein_id": "ENSP00000436928.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.*48+12997G>A",
"hgvs_p": null,
"transcript": "ENST00000521247.6",
"protein_id": "ENSP00000429253.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "n.543-847C>T",
"hgvs_p": null,
"transcript": "ENST00000518667.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.618+2316C>T",
"hgvs_p": null,
"transcript": "XM_011517540.4",
"protein_id": "XP_011515842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"hgvs_c": "c.594+2316C>T",
"hgvs_p": null,
"transcript": "XM_017013538.3",
"protein_id": "XP_016869027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.933+24467G>A",
"hgvs_p": null,
"transcript": "XM_006716484.3",
"protein_id": "XP_006716547.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.933+24467G>A",
"hgvs_p": null,
"transcript": "XM_011517626.3",
"protein_id": "XP_011515928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.933+24467G>A",
"hgvs_p": null,
"transcript": "XM_011517627.4",
"protein_id": "XP_011515929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.933+24467G>A",
"hgvs_p": null,
"transcript": "XM_047422463.1",
"protein_id": "XP_047278419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MTFR1",
"gene_hgnc_id": 29510,
"hgvs_c": "c.894+24467G>A",
"hgvs_p": null,
"transcript": "XM_011517628.3",
"protein_id": "XP_011515930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 358,
"cds_start": -4,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PDE7A",
"gene_hgnc_id": 8791,
"dbsnp": "rs10808746",
"frequency_reference_population": 0.597313,
"hom_count_reference_population": 29885,
"allele_count_reference_population": 90831,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.597313,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 90831,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 29885,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0099999904632568,
"computational_prediction_selected": "Benign",
"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": -1.01,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.34,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000401827.8",
"gene_symbol": "PDE7A",
"hgnc_id": 8791,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.696+2316C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001413084.1",
"gene_symbol": "MTFR1",
"hgnc_id": 29510,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*48+12997G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}