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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: 11-57614472-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=57614472&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 57614472,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000278407.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Ala465Val",
"transcript": "NM_000062.3",
"protein_id": "NP_000053.2",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 500,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "ENST00000278407.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Ala465Val",
"transcript": "ENST00000278407.9",
"protein_id": "ENSP00000278407.4",
"transcript_support_level": 1,
"aa_start": 465,
"aa_end": null,
"aa_length": 500,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "NM_000062.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000619430.2",
"protein_id": "ENSP00000478572.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 432,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1748,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*763C>T",
"hgvs_p": null,
"transcript": "ENST00000531133.5",
"protein_id": "ENSP00000435431.1",
"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": 1004,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*419C>T",
"hgvs_p": null,
"transcript": "ENST00000531797.5",
"protein_id": "ENSP00000432554.1",
"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": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*763C>T",
"hgvs_p": null,
"transcript": "ENST00000531133.5",
"protein_id": "ENSP00000435431.1",
"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": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*419C>T",
"hgvs_p": null,
"transcript": "ENST00000531797.5",
"protein_id": "ENSP00000432554.1",
"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": 907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Ala508Val",
"transcript": "ENST00000403558.1",
"protein_id": "ENSP00000384420.1",
"transcript_support_level": 5,
"aa_start": 508,
"aa_end": null,
"aa_length": 543,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1409C>T",
"hgvs_p": "p.Ala470Val",
"transcript": "ENST00000378323.8",
"protein_id": "ENSP00000367574.4",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 505,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Ala465Val",
"transcript": "NM_001032295.2",
"protein_id": "NP_001027466.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 500,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Ala465Val",
"transcript": "ENST00000676670.1",
"protein_id": "ENSP00000504807.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 500,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1340C>T",
"hgvs_p": "p.Ala447Val",
"transcript": "ENST00000677625.1",
"protein_id": "ENSP00000502857.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 482,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1283C>T",
"hgvs_p": "p.Ala428Val",
"transcript": "ENST00000340687.10",
"protein_id": "ENSP00000341861.6",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 463,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 1719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "c.1238C>T",
"hgvs_p": "p.Ala413Val",
"transcript": "ENST00000378324.6",
"protein_id": "ENSP00000367575.2",
"transcript_support_level": 2,
"aa_start": 413,
"aa_end": null,
"aa_length": 448,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 1751,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*291C>T",
"hgvs_p": null,
"transcript": "ENST00000528996.2",
"protein_id": "ENSP00000431226.2",
"transcript_support_level": 3,
"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": 841,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.851C>T",
"hgvs_p": null,
"transcript": "ENST00000530113.1",
"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": 908,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*1170C>T",
"hgvs_p": null,
"transcript": "ENST00000531605.2",
"protein_id": "ENSP00000503752.1",
"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": 1723,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.2476C>T",
"hgvs_p": null,
"transcript": "ENST00000676741.1",
"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": 2849,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*814C>T",
"hgvs_p": null,
"transcript": "ENST00000677624.1",
"protein_id": "ENSP00000503979.1",
"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": 2011,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.1647C>T",
"hgvs_p": null,
"transcript": "ENST00000677856.1",
"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": 2019,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*291C>T",
"hgvs_p": null,
"transcript": "ENST00000677915.1",
"protein_id": "ENSP00000503118.1",
"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": 1468,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*948C>T",
"hgvs_p": null,
"transcript": "ENST00000678533.1",
"protein_id": "ENSP00000503873.1",
"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": 1772,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"hgvs_c": "n.*334C>T",
"hgvs_p": null,
"transcript": "ENST00000678592.1",
"protein_id": "ENSP00000504424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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{
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}
],
"gene_symbol": "SERPING1",
"gene_hgnc_id": 1228,
"dbsnp": "rs121907950",
"frequency_reference_population": 0.0000013681968,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013682,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.884917140007019,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.643,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5734,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.357,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000278407.9",
"gene_symbol": "SERPING1",
"hgnc_id": 1228,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1394C>T",
"hgvs_p": "p.Ala465Val"
}
],
"clinvar_disease": " due to dysfunctional c1 inhibitor, partial deficiency of,Complement component 4,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}