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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: 18-51078452-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=51078452&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 51078452,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000342988.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "NM_005359.6",
"protein_id": "NP_005350.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "ENST00000342988.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000342988.8",
"protein_id": "ENSP00000341551.3",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 8772,
"mane_select": "NM_005359.6",
"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": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.3645A>C",
"hgvs_p": null,
"transcript": "ENST00000591126.5",
"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": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1725A>C",
"hgvs_p": "p.Pro575Pro",
"transcript": "ENST00000714264.1",
"protein_id": "ENSP00000519545.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 579,
"cds_start": 1725,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1722A>C",
"hgvs_p": "p.Pro574Pro",
"transcript": "ENST00000714270.1",
"protein_id": "ENSP00000519551.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 578,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1683A>C",
"hgvs_p": "p.Pro561Pro",
"transcript": "ENST00000714261.1",
"protein_id": "ENSP00000519542.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 565,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "NM_001407041.1",
"protein_id": "NP_001393970.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "NM_001407042.1",
"protein_id": "NP_001393971.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000398417.6",
"protein_id": "ENSP00000381452.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 8495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000588860.6",
"protein_id": "ENSP00000465878.2",
"transcript_support_level": 4,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 8474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000589076.6",
"protein_id": "ENSP00000466934.2",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 8538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000589941.2",
"protein_id": "ENSP00000465874.2",
"transcript_support_level": 3,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 8941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro",
"transcript": "ENST00000590061.2",
"protein_id": "ENSP00000464772.2",
"transcript_support_level": 4,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1620A>C",
"hgvs_p": "p.Pro540Pro",
"transcript": "ENST00000714272.1",
"protein_id": "ENSP00000519553.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 544,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1614A>C",
"hgvs_p": "p.Pro538Pro",
"transcript": "ENST00000714268.1",
"protein_id": "ENSP00000519549.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 542,
"cds_start": 1614,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1431A>C",
"hgvs_p": "p.Pro477Pro",
"transcript": "ENST00000714266.1",
"protein_id": "ENSP00000519547.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 481,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1416A>C",
"hgvs_p": "p.Pro472Pro",
"transcript": "ENST00000714269.1",
"protein_id": "ENSP00000519550.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 476,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "c.1356A>C",
"hgvs_p": "p.Pro452Pro",
"transcript": "ENST00000588745.5",
"protein_id": "ENSP00000464901.1",
"transcript_support_level": 5,
"aa_start": 452,
"aa_end": null,
"aa_length": 456,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1371,
"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": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.366A>C",
"hgvs_p": null,
"transcript": "ENST00000586253.1",
"protein_id": null,
"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": 784,
"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": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.*328A>C",
"hgvs_p": null,
"transcript": "ENST00000592186.5",
"protein_id": "ENSP00000468611.1",
"transcript_support_level": 5,
"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": 1306,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.*296A>C",
"hgvs_p": null,
"transcript": "ENST00000611848.2",
"protein_id": "ENSP00000478613.2",
"transcript_support_level": 5,
"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": 2906,
"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": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.3659A>C",
"hgvs_p": null,
"transcript": "ENST00000684953.1",
"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": 5164,
"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": "SMAD4",
"gene_hgnc_id": 6770,
"hgvs_c": "n.3574A>C",
"hgvs_p": null,
"transcript": "ENST00000685090.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.822,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000342988.8",
"gene_symbol": "SMAD4",
"hgnc_id": 6770,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1644A>C",
"hgvs_p": "p.Pro548Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}