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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: 3-69250082-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69250082&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69250082,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000398540.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.519G>T",
"hgvs_p": "p.Glu173Asp",
"transcript": "NM_015123.3",
"protein_id": "NP_055938.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 1034,
"cds_start": 519,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": "ENST00000398540.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.519G>T",
"hgvs_p": "p.Glu173Asp",
"transcript": "ENST00000398540.8",
"protein_id": "ENSP00000381549.3",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 1034,
"cds_start": 519,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": "NM_015123.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.192G>T",
"hgvs_p": "p.Glu64Asp",
"transcript": "ENST00000493880.5",
"protein_id": "ENSP00000418962.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 182,
"cds_start": 192,
"cds_end": null,
"cds_length": 549,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "ENST00000473029.5",
"protein_id": "ENSP00000418373.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 166,
"cds_start": 357,
"cds_end": null,
"cds_length": 503,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "ENST00000460709.5",
"protein_id": "ENSP00000418023.1",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 141,
"cds_start": 357,
"cds_end": null,
"cds_length": 427,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.519G>T",
"hgvs_p": "p.Glu173Asp",
"transcript": "XM_017005989.2",
"protein_id": "XP_016861478.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 1063,
"cds_start": 519,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Glu128Asp",
"transcript": "XM_017005990.2",
"protein_id": "XP_016861479.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 1018,
"cds_start": 384,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 6258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_017005991.2",
"protein_id": "XP_016861480.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1009,
"cds_start": 357,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_017005992.2",
"protein_id": "XP_016861481.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1009,
"cds_start": 357,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_047447767.1",
"protein_id": "XP_047303723.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1009,
"cds_start": 357,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 6623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_047447768.1",
"protein_id": "XP_047303724.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 1009,
"cds_start": 357,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.384G>T",
"hgvs_p": "p.Glu128Asp",
"transcript": "XM_005264722.2",
"protein_id": "XP_005264779.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 989,
"cds_start": 384,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 6166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_017005993.2",
"protein_id": "XP_016861482.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 980,
"cds_start": 357,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 6531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_017005994.2",
"protein_id": "XP_016861483.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 980,
"cds_start": 357,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_047447769.1",
"protein_id": "XP_047303725.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 980,
"cds_start": 357,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_047447770.1",
"protein_id": "XP_047303726.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 980,
"cds_start": 357,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.357G>T",
"hgvs_p": "p.Glu119Asp",
"transcript": "XM_047447771.1",
"protein_id": "XP_047303727.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 980,
"cds_start": 357,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 6574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "n.413G>T",
"hgvs_p": null,
"transcript": "ENST00000470070.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "n.131G>T",
"hgvs_p": null,
"transcript": "ENST00000483668.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "n.167G>T",
"hgvs_p": null,
"transcript": "ENST00000487751.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"hgvs_c": "c.-194G>T",
"hgvs_p": null,
"transcript": "XM_047447772.1",
"protein_id": "XP_047303728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 818,
"cds_start": -4,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRMD4B",
"gene_hgnc_id": 24886,
"dbsnp": "rs4361282",
"frequency_reference_population": 6.862589e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86259e-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": 0.09515073895454407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.0513,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.526,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000398540.8",
"gene_symbol": "FRMD4B",
"hgnc_id": 24886,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.519G>T",
"hgvs_p": "p.Glu173Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}