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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: 3-8635815-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8635815&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 8635815,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256748.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "NM_001256748.3",
"protein_id": "NP_001243677.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 375,
"cds_start": 71,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "ENST00000544814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "ENST00000544814.7",
"protein_id": "ENSP00000439378.1",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 375,
"cds_start": 71,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "NM_001256748.3",
"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": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "n.71C>T",
"hgvs_p": null,
"transcript": "ENST00000413305.5",
"protein_id": "ENSP00000388845.1",
"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": 1874,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-295C>T",
"hgvs_p": null,
"transcript": "ENST00000341795.7",
"protein_id": "ENSP00000339150.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.-149C>T",
"hgvs_p": null,
"transcript": "ENST00000420394.5",
"protein_id": "ENSP00000390328.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006511.2",
"protein_id": "XP_016862000.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006512.2",
"protein_id": "XP_016862001.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1460,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006513.2",
"protein_id": "XP_016862002.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006514.2",
"protein_id": "XP_016862003.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006515.2",
"protein_id": "XP_016862004.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006516.2",
"protein_id": "XP_016862005.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006517.2",
"protein_id": "XP_016862006.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448230.1",
"protein_id": "XP_047304186.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448231.1",
"protein_id": "XP_047304187.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448233.1",
"protein_id": "XP_047304189.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448234.1",
"protein_id": "XP_047304190.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448235.1",
"protein_id": "XP_047304191.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448236.1",
"protein_id": "XP_047304192.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_047448237.1",
"protein_id": "XP_047304193.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 558,
"cds_start": 172,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Pro58Ser",
"transcript": "XM_017006518.2",
"protein_id": "XP_016862007.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 551,
"cds_start": 172,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu",
"transcript": "XM_017006510.2",
"protein_id": "XP_016861999.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 532,
"cds_start": 71,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Pro26Ser",
"transcript": "XM_017006521.2",
"protein_id": "XP_016862010.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 526,
"cds_start": 76,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Pro26Ser",
"transcript": "XM_017006522.2",
"protein_id": "XP_016862011.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"dbsnp": "rs60723042",
"frequency_reference_population": 0.0040318957,
"hom_count_reference_population": 186,
"allele_count_reference_population": 6193,
"gnomad_exomes_af": 0.00232493,
"gnomad_genomes_af": 0.0195399,
"gnomad_exomes_ac": 3217,
"gnomad_genomes_ac": 2976,
"gnomad_exomes_homalt": 90,
"gnomad_genomes_homalt": 96,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007595330476760864,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.29,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.176,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001256748.3",
"gene_symbol": "SSUH2",
"hgnc_id": 24809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.71C>T",
"hgvs_p": "p.Pro24Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}