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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: 12-48065129-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48065129&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48065129,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000549518.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro",
"transcript": "NM_001267594.2",
"protein_id": "NP_001254523.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 644,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000549518.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro",
"transcript": "ENST00000549518.6",
"protein_id": "ENSP00000447328.1",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 644,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_001267594.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro",
"transcript": "ENST00000448372.6",
"protein_id": "ENSP00000394791.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 644,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1827,
"cdna_end": null,
"cdna_length": 8089,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.*949A>C",
"hgvs_p": null,
"transcript": "ENST00000552189.5",
"protein_id": "ENSP00000447593.1",
"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": 4967,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.*949A>C",
"hgvs_p": null,
"transcript": "ENST00000552189.5",
"protein_id": "ENSP00000447593.1",
"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": 4967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro",
"transcript": "NM_001267595.2",
"protein_id": "NP_001254524.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 644,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro",
"transcript": "ENST00000549595.5",
"protein_id": "ENSP00000450076.1",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 643,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1400A>C",
"hgvs_p": "p.Gln467Pro",
"transcript": "XM_017019229.3",
"protein_id": "XP_016874718.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 707,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1361A>C",
"hgvs_p": "p.Gln454Pro",
"transcript": "XM_017019230.3",
"protein_id": "XP_016874719.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 694,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 1900,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.Gln436Pro",
"transcript": "XM_006719361.4",
"protein_id": "XP_006719424.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 676,
"cds_start": 1307,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1304A>C",
"hgvs_p": "p.Gln435Pro",
"transcript": "XM_017019231.3",
"protein_id": "XP_016874720.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 675,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1304A>C",
"hgvs_p": "p.Gln435Pro",
"transcript": "XM_017019232.2",
"protein_id": "XP_016874721.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 675,
"cds_start": 1304,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1268A>C",
"hgvs_p": "p.Gln423Pro",
"transcript": "XM_011538244.4",
"protein_id": "XP_011536546.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 663,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1259A>C",
"hgvs_p": "p.Gln420Pro",
"transcript": "XM_011538245.4",
"protein_id": "XP_011536547.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 660,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1798,
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"cdna_length": 4947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1220A>C",
"hgvs_p": "p.Gln407Pro",
"transcript": "XM_047428752.1",
"protein_id": "XP_047284708.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 647,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1759,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1190A>C",
"hgvs_p": "p.Gln397Pro",
"transcript": "XM_017019233.3",
"protein_id": "XP_016874722.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 637,
"cds_start": 1190,
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"cdna_start": 1859,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1190A>C",
"hgvs_p": "p.Gln397Pro",
"transcript": "XM_017019234.3",
"protein_id": "XP_016874723.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 637,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1190A>C",
"hgvs_p": "p.Gln397Pro",
"transcript": "XM_017019235.2",
"protein_id": "XP_016874724.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 637,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 4469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "c.1172A>C",
"hgvs_p": "p.Gln391Pro",
"transcript": "XM_017019237.2",
"protein_id": "XP_016874726.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 631,
"cds_start": 1172,
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"cdna_start": 1268,
"cdna_end": null,
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"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.177A>C",
"hgvs_p": null,
"transcript": "ENST00000551358.1",
"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": 452,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.1977A>C",
"hgvs_p": null,
"transcript": "NR_051991.1",
"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": 5125,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"hgvs_c": "n.1853A>C",
"hgvs_p": null,
"transcript": "NR_051992.2",
"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": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SENP1",
"gene_hgnc_id": 17927,
"dbsnp": "rs182987633",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1254156529903412,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0587,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.71,
"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": "ENST00000549518.6",
"gene_symbol": "SENP1",
"hgnc_id": 17927,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1211A>C",
"hgvs_p": "p.Gln404Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}