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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: 5-112827116-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=112827116&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 112827116,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000257430.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "NM_000038.6",
"protein_id": "NP_000029.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "ENST00000257430.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "ENST00000257430.9",
"protein_id": "ENSP00000257430.4",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": "NM_000038.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "ENST00000508376.6",
"protein_id": "ENSP00000427089.2",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 10619,
"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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.1473C>T",
"hgvs_p": null,
"transcript": "ENST00000505084.2",
"protein_id": null,
"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": 3780,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*739C>T",
"hgvs_p": null,
"transcript": "ENST00000508624.5",
"protein_id": "ENSP00000424265.1",
"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": 7406,
"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": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.*739C>T",
"hgvs_p": null,
"transcript": "ENST00000508624.5",
"protein_id": "ENSP00000424265.1",
"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": 7406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "n.1408+5125C>T",
"hgvs_p": null,
"transcript": "ENST00000502371.3",
"protein_id": "ENSP00000484935.2",
"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": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1501C>T",
"hgvs_p": "p.Gln501*",
"transcript": "NM_001407446.1",
"protein_id": "NP_001394375.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 2871,
"cds_start": 1501,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 10949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Gln491*",
"transcript": "NM_001354896.2",
"protein_id": "NP_001341825.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1471,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 10758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Gln491*",
"transcript": "NM_001407447.1",
"protein_id": "NP_001394376.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1471,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 11102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Gln491*",
"transcript": "NM_001407448.1",
"protein_id": "NP_001394377.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1471,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1641,
"cdna_end": null,
"cdna_length": 10869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Gln491*",
"transcript": "NM_001407449.1",
"protein_id": "NP_001394378.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1471,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 10866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1471C>T",
"hgvs_p": "p.Gln491*",
"transcript": "ENST00000504915.3",
"protein_id": "ENSP00000473355.2",
"transcript_support_level": 5,
"aa_start": 491,
"aa_end": null,
"aa_length": 2861,
"cds_start": 1471,
"cds_end": null,
"cds_length": 8586,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 9496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1447C>T",
"hgvs_p": "p.Gln483*",
"transcript": "NM_001354897.2",
"protein_id": "NP_001341826.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 2853,
"cds_start": 1447,
"cds_end": null,
"cds_length": 8562,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "NM_001127510.3",
"protein_id": "NP_001120982.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1584,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "NM_001354895.2",
"protein_id": "NP_001341824.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 11048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "NM_001407450.1",
"protein_id": "NP_001394379.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "ENST00000509732.6",
"protein_id": "ENSP00000426541.2",
"transcript_support_level": 4,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 10616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "ENST00000512211.7",
"protein_id": "ENSP00000423828.3",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 2843,
"cds_start": 1417,
"cds_end": null,
"cds_length": 8532,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 9737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1396C>T",
"hgvs_p": "p.Gln466*",
"transcript": "NM_001407451.1",
"protein_id": "NP_001394380.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 2836,
"cds_start": 1396,
"cds_end": null,
"cds_length": 8511,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 10713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1387C>T",
"hgvs_p": "p.Gln463*",
"transcript": "NM_001407452.1",
"protein_id": "NP_001394381.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 2833,
"cds_start": 1387,
"cds_end": null,
"cds_length": 8502,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 11018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"transcript": "NM_001127511.3",
"protein_id": "NP_001120983.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 2825,
"cds_start": 1363,
"cds_end": null,
"cds_length": 8478,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APC",
"gene_hgnc_id": 583,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Gln455*",
"transcript": "ENST00000507379.6",
"protein_id": "ENSP00000423224.2",
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],
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"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
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"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000257430.9",
"gene_symbol": "APC",
"hgnc_id": 583,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*"
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{
"score": 14,
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"pathogenic_score": 14,
"criteria": [
"PM2",
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000520401.1",
"gene_symbol": "ENSG00000258864",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-99C>T",
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}
],
"clinvar_disease": "Familial adenomatous polyposis 1,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 1|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}