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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: 3-123733993-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123733993&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123733993,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_053025.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "NM_053025.4",
"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": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*582A>G",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"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": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*582A>G",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"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": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "ENST00000687848.1",
"protein_id": "ENSP00000508761.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1924,
"cds_start": 1033,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000686761.1",
"protein_id": "ENSP00000508758.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000686406.1",
"protein_id": "ENSP00000509044.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1913,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5742,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "NM_053027.4",
"protein_id": "NP_444255.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1863,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000360772.7",
"protein_id": "ENSP00000354004.3",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 1863,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1845,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 9906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000693689.1",
"protein_id": "ENSP00000510503.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1845,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5538,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 7398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "NM_053028.4",
"protein_id": "NP_444256.3",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1794,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 9753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "ENST00000346322.10",
"protein_id": "ENSP00000320622.6",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 1794,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.475A>G",
"hgvs_p": "p.Thr159Ala",
"transcript": "NM_001321309.2",
"protein_id": "NP_001308238.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1738,
"cds_start": 475,
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"cds_length": 5217,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_024453532.2",
"protein_id": "XP_024309300.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1924,
"cds_start": 1033,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 10114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_047448183.1",
"protein_id": "XP_047304139.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1924,
"cds_start": 1033,
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"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 10173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_047448187.1",
"protein_id": "XP_047304143.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1924,
"cds_start": 1033,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 10241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_011512860.4",
"protein_id": "XP_011511162.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1923,
"cds_start": 1033,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 9955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "XM_024453537.2",
"protein_id": "XP_024309305.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
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"cdna_start": 1230,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "XM_047448184.1",
"protein_id": "XP_047304140.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 10054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1003A>G",
"hgvs_p": "p.Thr335Ala",
"transcript": "XM_047448185.1",
"protein_id": "XP_047304141.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1914,
"cds_start": 1003,
"cds_end": null,
"cds_length": 5745,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 10078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_011512861.4",
"protein_id": "XP_011511163.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1856,
"cds_start": 1033,
"cds_end": null,
"cds_length": 5571,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 9754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.1033A>G",
"hgvs_p": "p.Thr345Ala",
"transcript": "XM_024453534.2",
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},
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}
],
"gene_symbol": "MYLK",
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"dbsnp": "rs757891156",
"frequency_reference_population": 0.000005576291,
"hom_count_reference_population": 0,
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"computational_score_selected": 0.025903791189193726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.061,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.606,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"benign_score": 4,
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_053025.4",
"gene_symbol": "MYLK",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1003A>G",
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}
],
"clinvar_disease": " familial thoracic 7,Aortic aneurysm,MYLK-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Aortic aneurysm, familial thoracic 7|MYLK-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}