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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: 15-67187472-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67187472&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 67187472,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001407011.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "NM_005902.4",
"protein_id": "NP_005893.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 425,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327367.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005902.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "ENST00000327367.9",
"protein_id": "ENSP00000332973.4",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 425,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005902.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327367.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Arg329Ser",
"transcript": "ENST00000439724.7",
"protein_id": "ENSP00000401133.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 381,
"cds_start": 985,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439724.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "ENST00000540846.6",
"protein_id": "ENSP00000437757.2",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540846.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000537194.6",
"protein_id": "ENSP00000445348.2",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 230,
"cds_start": 532,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537194.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Arg410Ser",
"transcript": "NM_001407011.1",
"protein_id": "NP_001393940.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 462,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407011.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Arg410Ser",
"transcript": "ENST00000560424.2",
"protein_id": "ENSP00000455540.2",
"transcript_support_level": 3,
"aa_start": 410,
"aa_end": null,
"aa_length": 462,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560424.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.1150C>A",
"hgvs_p": "p.Arg384Ser",
"transcript": "ENST00000714110.1",
"protein_id": "ENSP00000519402.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 436,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714110.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Arg329Ser",
"transcript": "NM_001145103.2",
"protein_id": "NP_001138575.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 381,
"cds_start": 985,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145103.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Arg329Ser",
"transcript": "NM_001407012.1",
"protein_id": "NP_001393941.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 381,
"cds_start": 985,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407012.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.985C>A",
"hgvs_p": "p.Arg329Ser",
"transcript": "ENST00000714109.1",
"protein_id": "ENSP00000519401.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 381,
"cds_start": 985,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714109.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.979C>A",
"hgvs_p": "p.Arg327Ser",
"transcript": "NM_001407013.1",
"protein_id": "NP_001393942.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 379,
"cds_start": 979,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407013.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Ser",
"transcript": "NM_001407014.1",
"protein_id": "NP_001393943.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 376,
"cds_start": 970,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407014.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "NM_001145102.2",
"protein_id": "NP_001138574.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145102.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "NM_001407016.1",
"protein_id": "NP_001393945.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407016.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "ENST00000558739.2",
"protein_id": "ENSP00000453684.2",
"transcript_support_level": 3,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558739.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "ENST00000559460.6",
"protein_id": "ENSP00000453082.2",
"transcript_support_level": 4,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559460.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "ENST00000679624.1",
"protein_id": "ENSP00000505445.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679624.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Arg268Ser",
"transcript": "ENST00000681239.1",
"protein_id": "ENSP00000505641.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 320,
"cds_start": 802,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681239.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Arg256Ser",
"transcript": "ENST00000714108.1",
"protein_id": "ENSP00000519400.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 308,
"cds_start": 766,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714108.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Ser",
"transcript": "NM_001407015.1",
"protein_id": "NP_001393944.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 276,
"cds_start": 670,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407015.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD3",
"gene_hgnc_id": 6769,
"hgvs_c": "c.664C>A",
"hgvs_p": "p.Arg222Ser",
"transcript": "ENST00000558894.6",
"protein_id": "ENSP00000458060.2",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 274,
"cds_start": 664,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558894.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
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],
"gene_symbol": "SMAD3",
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"allele_count_reference_population": 0,
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"computational_score_selected": 0.9841046333312988,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.968,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.988,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001407011.1",
"gene_symbol": "SMAD3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Arg410Ser"
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}