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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: 9-83247962-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83247962&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83247962,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000304195.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1750G>C",
"hgvs_p": "p.Ala584Pro",
"transcript": "NM_174938.6",
"protein_id": "NP_777598.3",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 597,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": "ENST00000304195.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1750G>C",
"hgvs_p": "p.Ala584Pro",
"transcript": "ENST00000304195.8",
"protein_id": "ENSP00000303508.3",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 597,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 5260,
"mane_select": "NM_174938.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1618G>C",
"hgvs_p": "p.Ala540Pro",
"transcript": "ENST00000621208.4",
"protein_id": "ENSP00000484839.1",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 553,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 5064,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1075+93G>C",
"hgvs_p": null,
"transcript": "ENST00000376434.5",
"protein_id": "ENSP00000365617.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1397,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.628+93G>C",
"hgvs_p": null,
"transcript": "ENST00000328788.5",
"protein_id": "ENSP00000328615.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1618G>C",
"hgvs_p": "p.Ala540Pro",
"transcript": "NM_001244960.2",
"protein_id": "NP_001231889.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 553,
"cds_start": 1618,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.721G>C",
"hgvs_p": "p.Ala241Pro",
"transcript": "NM_001375487.1",
"protein_id": "NP_001362416.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 254,
"cds_start": 721,
"cds_end": null,
"cds_length": 765,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1627G>C",
"hgvs_p": "p.Ala543Pro",
"transcript": "XM_017014588.2",
"protein_id": "XP_016870077.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 556,
"cds_start": 1627,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 4982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Ala488Pro",
"transcript": "XM_024447487.2",
"protein_id": "XP_024303255.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 501,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 5331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Ala488Pro",
"transcript": "XM_024447488.2",
"protein_id": "XP_024303256.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 501,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 6713,
"cdna_end": null,
"cdna_length": 10053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Ala488Pro",
"transcript": "XM_047423153.1",
"protein_id": "XP_047279109.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 501,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 4964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Ala488Pro",
"transcript": "XM_047423154.1",
"protein_id": "XP_047279110.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 501,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Ala488Pro",
"transcript": "XM_047423155.1",
"protein_id": "XP_047279111.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 501,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1681,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1168G>C",
"hgvs_p": "p.Ala390Pro",
"transcript": "XM_017014589.2",
"protein_id": "XP_016870078.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 403,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1264,
"cdna_end": null,
"cdna_length": 4604,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1657+93G>C",
"hgvs_p": null,
"transcript": "NM_001244959.2",
"protein_id": "NP_001231888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2051,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1657+93G>C",
"hgvs_p": null,
"transcript": "ENST00000376438.5",
"protein_id": "ENSP00000365621.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": -4,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2198,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.1075+93G>C",
"hgvs_p": null,
"transcript": "NM_001244961.2",
"protein_id": "NP_001231890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1395,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "c.628+93G>C",
"hgvs_p": null,
"transcript": "NM_001244962.2",
"protein_id": "NP_001231891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FRMD3-AS1",
"gene_hgnc_id": 55790,
"hgvs_c": "n.91-22033C>G",
"hgvs_p": null,
"transcript": "ENST00000798817.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD3-AS1",
"gene_hgnc_id": 55790,
"hgvs_c": "n.289+14043C>G",
"hgvs_p": null,
"transcript": "ENST00000798818.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD3-AS1",
"gene_hgnc_id": 55790,
"hgvs_c": "n.248-468C>G",
"hgvs_p": null,
"transcript": "ENST00000798819.1",
"protein_id": null,
"transcript_support_level": null,
"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": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FRMD3-AS1",
"gene_hgnc_id": 55790,
"hgvs_c": "n.237+14043C>G",
"hgvs_p": null,
"transcript": "NR_184120.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"hgvs_c": "n.*10G>C",
"hgvs_p": null,
"transcript": "ENST00000465485.1",
"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": 604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FRMD3",
"gene_hgnc_id": 24125,
"dbsnp": "rs1221837522",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-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": 0.7058030366897583,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.579,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6418,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.158,
"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": 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": "ENST00000304195.8",
"gene_symbol": "FRMD3",
"hgnc_id": 24125,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1750G>C",
"hgvs_p": "p.Ala584Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_184120.1",
"gene_symbol": "FRMD3-AS1",
"hgnc_id": 55790,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.237+14043C>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
}