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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: 15-67181296-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67181296&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67181296,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000327367.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Tyr238Tyr",
"transcript": "NM_005902.4",
"protein_id": "NP_005893.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 425,
"cds_start": 714,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": "ENST00000327367.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Tyr238Tyr",
"transcript": "ENST00000327367.9",
"protein_id": "ENSP00000332973.4",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 425,
"cds_start": 714,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": "NM_005902.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Tyr194Tyr",
"transcript": "ENST00000439724.7",
"protein_id": "ENSP00000401133.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 381,
"cds_start": 582,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000540846.6",
"protein_id": "ENSP00000437757.2",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
"cds_length": 963,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Tyr43Tyr",
"transcript": "ENST00000537194.6",
"protein_id": "ENSP00000445348.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 230,
"cds_start": 129,
"cds_end": null,
"cds_length": 693,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Tyr238Tyr",
"transcript": "NM_001407011.1",
"protein_id": "NP_001393940.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 462,
"cds_start": 714,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Tyr238Tyr",
"transcript": "ENST00000560424.2",
"protein_id": "ENSP00000455540.2",
"transcript_support_level": 3,
"aa_start": 238,
"aa_end": null,
"aa_length": 462,
"cds_start": 714,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.747C>T",
"hgvs_p": "p.Tyr249Tyr",
"transcript": "ENST00000714110.1",
"protein_id": "ENSP00000519402.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 436,
"cds_start": 747,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Tyr194Tyr",
"transcript": "NM_001145103.2",
"protein_id": "NP_001138575.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 381,
"cds_start": 582,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Tyr194Tyr",
"transcript": "NM_001407012.1",
"protein_id": "NP_001393941.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 381,
"cds_start": 582,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1135,
"cdna_end": null,
"cdna_length": 6332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Tyr194Tyr",
"transcript": "ENST00000714109.1",
"protein_id": "ENSP00000519401.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 381,
"cds_start": 582,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.714C>T",
"hgvs_p": "p.Tyr238Tyr",
"transcript": "NM_001407013.1",
"protein_id": "NP_001393942.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 379,
"cds_start": 714,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 6326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.567C>T",
"hgvs_p": "p.Tyr189Tyr",
"transcript": "NM_001407014.1",
"protein_id": "NP_001393943.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 376,
"cds_start": 567,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 6051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "NM_001145102.2",
"protein_id": "NP_001138574.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
"cds_length": 963,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 5948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "NM_001407016.1",
"protein_id": "NP_001393945.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 6207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000558739.2",
"protein_id": "ENSP00000453684.2",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
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"cdna_start": 796,
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"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000559460.6",
"protein_id": "ENSP00000453082.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
"cds_length": 963,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 5887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000679624.1",
"protein_id": "ENSP00000505445.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
"cds_end": null,
"cds_length": 963,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 5838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000681239.1",
"protein_id": "ENSP00000505641.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 320,
"cds_start": 399,
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"cdna_start": 665,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.267C>T",
"hgvs_p": "p.Tyr89Tyr",
"transcript": "NM_001407015.1",
"protein_id": "NP_001393944.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 276,
"cds_start": 267,
"cds_end": null,
"cds_length": 831,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 5816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.399C>T",
"hgvs_p": "p.Tyr133Tyr",
"transcript": "ENST00000558894.6",
"protein_id": "ENSP00000458060.2",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 274,
"cds_start": 399,
"cds_end": null,
"cds_length": 825,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Tyr43Tyr",
"transcript": "NM_001145104.2",
"protein_id": "NP_001138576.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 230,
"cds_start": 129,
"cds_end": null,
"cds_length": 693,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.129C>T",
"hgvs_p": "p.Tyr43Tyr",
"transcript": "NM_001407017.1",
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],
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"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.706,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000327367.9",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.714C>T",
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}
],
"clinvar_disease": "Aneurysm-osteoarthritis syndrome,Familial thoracic aortic aneurysm and aortic dissection,SMAD3-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|not provided|Aneurysm-osteoarthritis syndrome|SMAD3-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}