← Back to variant description
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: 9-37719151-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37719151&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37719151,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014907.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "NM_014907.3",
"protein_id": "NP_055722.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "ENST00000377765.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014907.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "ENST00000377765.8",
"protein_id": "ENSP00000366995.3",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": "NM_014907.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377765.8"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "ENST00000539465.5",
"protein_id": "ENSP00000444411.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255872",
"gene_hgnc_id": null,
"hgvs_c": "n.*1011+8777T>G",
"hgvs_p": null,
"transcript": "ENST00000540557.1",
"protein_id": "ENSP00000457548.1",
"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": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540557.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "NM_001371223.1",
"protein_id": "NP_001358152.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371223.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "NM_001371224.1",
"protein_id": "NP_001358153.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371224.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "NM_001371225.1",
"protein_id": "NP_001358154.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 4987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371225.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala",
"transcript": "XM_047423003.1",
"protein_id": "XP_047278959.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 1578,
"cds_start": 491,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423003.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.164A>C",
"hgvs_p": "p.Glu55Ala",
"transcript": "XM_017014481.2",
"protein_id": "XP_016869970.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 1469,
"cds_start": 164,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014481.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.116A>C",
"hgvs_p": "p.Glu39Ala",
"transcript": "XM_011517805.3",
"protein_id": "XP_011516107.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1453,
"cds_start": 116,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 4710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517805.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.116A>C",
"hgvs_p": "p.Glu39Ala",
"transcript": "XM_017014482.2",
"protein_id": "XP_016869971.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 1453,
"cds_start": 116,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 5154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014482.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.113A>C",
"hgvs_p": "p.Glu38Ala",
"transcript": "XM_011517806.3",
"protein_id": "XP_011516108.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 1452,
"cds_start": 113,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 1542,
"cdna_end": null,
"cdna_length": 5923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517806.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.-44A>C",
"hgvs_p": null,
"transcript": "XM_024447454.2",
"protein_id": "XP_024303222.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447454.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.-44A>C",
"hgvs_p": null,
"transcript": "XM_024447456.2",
"protein_id": "XP_024303224.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447456.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "c.-44A>C",
"hgvs_p": null,
"transcript": "XM_047423004.1",
"protein_id": "XP_047278960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": null,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423004.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"hgvs_c": "n.636A>C",
"hgvs_p": null,
"transcript": "XR_929220.3",
"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": 5485,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_929220.3"
}
],
"gene_symbol": "FRMPD1",
"gene_hgnc_id": 29159,
"dbsnp": "rs1823282397",
"frequency_reference_population": 6.852037e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85204e-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": 0.6839832663536072,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.347,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.168,
"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": 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_014907.3",
"gene_symbol": "FRMPD1",
"hgnc_id": 29159,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491A>C",
"hgvs_p": "p.Glu164Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000540557.1",
"gene_symbol": "ENSG00000255872",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1011+8777T>G",
"hgvs_p": null
}
],
"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
}