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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: 4-106230366-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=106230366&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 106230366,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000394708.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "NM_001163435.3",
"protein_id": "NP_001156907.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": "ENST00000394708.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "ENST00000394708.7",
"protein_id": "ENSP00000378198.2",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 7961,
"mane_select": "NM_001163435.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "ENST00000394706.7",
"protein_id": "ENSP00000378196.3",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 854,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Gln528*",
"transcript": "ENST00000361687.8",
"protein_id": "ENSP00000355338.4",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 830,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3312,
"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": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*1410C>T",
"hgvs_p": null,
"transcript": "ENST00000467183.6",
"protein_id": "ENSP00000421182.1",
"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": 3566,
"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": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "n.*1410C>T",
"hgvs_p": null,
"transcript": "ENST00000467183.6",
"protein_id": "ENSP00000421182.1",
"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": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "NM_001163436.4",
"protein_id": "NP_001156908.2",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 7818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "ENST00000273980.10",
"protein_id": "ENSP00000273980.4",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 7818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1654C>T",
"hgvs_p": "p.Gln552*",
"transcript": "NM_001163437.3",
"protein_id": "NP_001156909.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 854,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Gln528*",
"transcript": "NM_033115.5",
"protein_id": "NP_149106.3",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 830,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_001290768.2",
"protein_id": "NP_001277697.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 721,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 8062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_011532417.3",
"protein_id": "XP_011530719.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 11966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_017008846.2",
"protein_id": "XP_016864335.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 7965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_024454281.2",
"protein_id": "XP_024310049.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 893,
"cds_start": 1771,
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"cds_length": 2682,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 7973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_017008847.3",
"protein_id": "XP_016864336.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 857,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_047416422.1",
"protein_id": "XP_047272378.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 857,
"cds_start": 1771,
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"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 3809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_047416423.1",
"protein_id": "XP_047272379.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 857,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "XM_047416424.1",
"protein_id": "XP_047272380.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 857,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 6084,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Gln528*",
"transcript": "XM_047416425.1",
"protein_id": "XP_047272381.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 830,
"cds_start": 1582,
"cds_end": null,
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"cdna_start": 1894,
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"cdna_length": 7776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Gln528*",
"transcript": "XM_047416426.1",
"protein_id": "XP_047272382.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 794,
"cds_start": 1582,
"cds_end": null,
"cds_length": 2385,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1453C>T",
"hgvs_p": "p.Gln485*",
"transcript": "XM_017008848.2",
"protein_id": "XP_016864337.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 787,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "XM_017008849.2",
"protein_id": "XP_016864338.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 721,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 7639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCK",
"gene_hgnc_id": 28261,
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],
"gene_symbol": "TBCK",
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"dbsnp": "rs1057518332",
"frequency_reference_population": 0.000004909173,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.962,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000394708.7",
"gene_symbol": "TBCK",
"hgnc_id": 28261,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1771C>T",
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],
"clinvar_disease": " infantile, with psychomotor retardation and characteristic facies 3,Hypotonia,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:3",
"phenotype_combined": "not provided|Hypotonia, infantile, with psychomotor retardation and characteristic facies 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}