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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: 7-151077221-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151077221&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151077221,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000297532.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly",
"transcript": "NM_006712.5",
"protein_id": "NP_006703.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 549,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": "ENST00000297532.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly",
"transcript": "ENST00000297532.11",
"protein_id": "ENSP00000297532.6",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 549,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": "NM_006712.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Ala409Gly",
"transcript": "ENST00000482571.2",
"protein_id": "ENSP00000418516.1",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 522,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Ala295Gly",
"transcript": "ENST00000353841.6",
"protein_id": "ENSP00000324817.6",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 408,
"cds_start": 884,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1402,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.2496C>G",
"hgvs_p": null,
"transcript": "ENST00000467237.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3011,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1307C>G",
"hgvs_p": null,
"transcript": "ENST00000489884.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Ala409Gly",
"transcript": "NM_001258461.2",
"protein_id": "NP_001245390.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 522,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Ala295Gly",
"transcript": "NM_033015.4",
"protein_id": "NP_148936.2",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 408,
"cds_start": 884,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1205C>G",
"hgvs_p": "p.Ala402Gly",
"transcript": "XM_005249932.2",
"protein_id": "XP_005249989.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 515,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly",
"transcript": "XM_011515761.4",
"protein_id": "XP_011514063.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 494,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1226C>G",
"hgvs_p": "p.Ala409Gly",
"transcript": "XM_047419828.1",
"protein_id": "XP_047275784.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 467,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.803C>G",
"hgvs_p": "p.Ala268Gly",
"transcript": "XM_011515763.2",
"protein_id": "XP_011514065.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 381,
"cds_start": 803,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.884C>G",
"hgvs_p": "p.Ala295Gly",
"transcript": "XM_017011705.3",
"protein_id": "XP_016867194.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 353,
"cds_start": 884,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1256,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.292C>G",
"hgvs_p": null,
"transcript": "ENST00000459800.1",
"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": 449,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1082C>G",
"hgvs_p": null,
"transcript": "ENST00000460980.5",
"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": 1521,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1469C>G",
"hgvs_p": null,
"transcript": "ENST00000466855.1",
"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": 1894,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1401C>G",
"hgvs_p": null,
"transcript": "ENST00000469237.5",
"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": 1904,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.1404C>G",
"hgvs_p": null,
"transcript": "ENST00000482806.5",
"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": 1826,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.692C>G",
"hgvs_p": null,
"transcript": "ENST00000483953.5",
"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": 1178,
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1291+89C>G",
"hgvs_p": null,
"transcript": "XM_011515762.4",
"protein_id": "XP_011514064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1543,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.1108+89C>G",
"hgvs_p": null,
"transcript": "XM_047419830.1",
"protein_id": "XP_047275786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 401,
"cds_start": -4,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2224,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "c.868+89C>G",
"hgvs_p": null,
"transcript": "XM_047419831.1",
"protein_id": "XP_047275787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": -4,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASTK",
"gene_hgnc_id": 24676,
"hgvs_c": "n.-66C>G",
"hgvs_p": null,
"transcript": "ENST00000465272.1",
"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": 457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FASTK",
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"dbsnp": "rs2288648",
"frequency_reference_population": 6.84788e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84788e-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": 0.09814977645874023,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.1896,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.461,
"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": 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": "ENST00000297532.11",
"gene_symbol": "FASTK",
"hgnc_id": 24676,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ala436Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}