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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: 3-8623606-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=8623606&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 8623606,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001256748.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Gln308His",
"transcript": "NM_001256748.3",
"protein_id": "NP_001243677.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 375,
"cds_start": 924,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "ENST00000544814.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Gln308His",
"transcript": "ENST00000544814.7",
"protein_id": "ENSP00000439378.1",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 375,
"cds_start": 924,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": "NM_001256748.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "ENST00000341795.7",
"protein_id": "ENSP00000339150.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "ENST00000420394.5",
"protein_id": "ENSP00000390328.2",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 968,
"cdna_end": null,
"cdna_length": 1634,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "n.*701G>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": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "n.*701G>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": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "NM_001256749.3",
"protein_id": "NP_001243678.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "NM_015931.4",
"protein_id": "NP_057015.2",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "ENST00000317371.8",
"protein_id": "ENSP00000324551.5",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.705G>T",
"hgvs_p": "p.Gln235His",
"transcript": "ENST00000435138.5",
"protein_id": "ENSP00000412333.2",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 302,
"cds_start": 705,
"cds_end": null,
"cds_length": 909,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006511.2",
"protein_id": "XP_016862000.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2591,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006512.2",
"protein_id": "XP_016862001.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2761,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006513.2",
"protein_id": "XP_016862002.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006514.2",
"protein_id": "XP_016862003.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006515.2",
"protein_id": "XP_016862004.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2755,
"cdna_end": null,
"cdna_length": 3441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006516.2",
"protein_id": "XP_016862005.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_017006517.2",
"protein_id": "XP_016862006.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_047448230.1",
"protein_id": "XP_047304186.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_047448231.1",
"protein_id": "XP_047304187.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2794,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_047448233.1",
"protein_id": "XP_047304189.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_047448234.1",
"protein_id": "XP_047304190.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
"hgvs_p": "p.Gln491His",
"transcript": "XM_047448235.1",
"protein_id": "XP_047304191.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 558,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSUH2",
"gene_hgnc_id": 24809,
"hgvs_c": "c.1473G>T",
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"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000143374,
"gnomad_genomes_af": 0.0000262729,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21840044856071472,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.44999998807907104,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.2659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.618,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.45,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001256748.3",
"gene_symbol": "SSUH2",
"hgnc_id": 24809,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Gln308His"
}
],
"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
}