← Back to variant description
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: 11-75566896-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75566896&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75566896,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000358171.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001235.5",
"protein_id": "NP_001226.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": "ENST00000358171.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000358171.8",
"protein_id": "ENSP00000350894.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": "NM_001235.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000530284.5",
"protein_id": "ENSP00000436305.1",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 324,
"cds_start": 547,
"cds_end": null,
"cds_length": 975,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001207014.3",
"protein_id": "NP_001193943.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440311.1",
"protein_id": "NP_001427240.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440312.1",
"protein_id": "NP_001427241.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440313.1",
"protein_id": "NP_001427242.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440314.1",
"protein_id": "NP_001427243.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440315.1",
"protein_id": "NP_001427244.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440316.1",
"protein_id": "NP_001427245.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000524558.5",
"protein_id": "ENSP00000434412.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000533603.5",
"protein_id": "ENSP00000434657.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 418,
"cds_start": 547,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "NM_001440317.1",
"protein_id": "NP_001427246.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 385,
"cds_start": 547,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000533449.6",
"protein_id": "ENSP00000431827.2",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 370,
"cds_start": 547,
"cds_end": null,
"cds_length": 1114,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000532356.5",
"protein_id": "ENSP00000436040.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 294,
"cds_start": 547,
"cds_end": null,
"cds_length": 887,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000526397.5",
"protein_id": "ENSP00000434964.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 248,
"cds_start": 547,
"cds_end": null,
"cds_length": 749,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000525611.5",
"protein_id": "ENSP00000435452.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 246,
"cds_start": 547,
"cds_end": null,
"cds_length": 743,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg",
"transcript": "ENST00000528760.1",
"protein_id": "ENSP00000437108.1",
"transcript_support_level": 2,
"aa_start": 183,
"aa_end": null,
"aa_length": 202,
"cds_start": 547,
"cds_end": null,
"cds_length": 610,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.406G>C",
"hgvs_p": "p.Gly136Arg",
"transcript": "ENST00000525492.5",
"protein_id": "ENSP00000434482.1",
"transcript_support_level": 4,
"aa_start": 136,
"aa_end": null,
"aa_length": 141,
"cds_start": 406,
"cds_end": null,
"cds_length": 428,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "n.547G>C",
"hgvs_p": null,
"transcript": "ENST00000649490.1",
"protein_id": "ENSP00000497544.1",
"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": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.*47G>C",
"hgvs_p": null,
"transcript": "ENST00000529643.1",
"protein_id": "ENSP00000435936.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.*52G>C",
"hgvs_p": null,
"transcript": "ENST00000528990.1",
"protein_id": "ENSP00000432007.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": -4,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"hgvs_c": "c.*215G>C",
"hgvs_p": null,
"transcript": "ENST00000526242.1",
"protein_id": "ENSP00000431384.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SERPINH1",
"gene_hgnc_id": 1546,
"dbsnp": "rs758606932",
"frequency_reference_population": 6.865708e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86571e-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": 0.965470552444458,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4223,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.88,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000358171.8",
"gene_symbol": "SERPINH1",
"hgnc_id": 1546,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Gly183Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}