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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: X-154013385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154013385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154013385,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001569.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Gly530Arg",
"transcript": "NM_001569.4",
"protein_id": "NP_001560.2",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 712,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369980.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001569.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Gly530Arg",
"transcript": "ENST00000369980.8",
"protein_id": "ENSP00000358997.3",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 712,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001569.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369980.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Gly451Arg",
"transcript": "ENST00000369974.6",
"protein_id": "ENSP00000358991.2",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 633,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369974.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1540-42G>A",
"hgvs_p": null,
"transcript": "ENST00000393687.6",
"protein_id": "ENSP00000377291.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393687.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Gly530Arg",
"transcript": "ENST00000927323.1",
"protein_id": "ENSP00000597382.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 712,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927323.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Gly529Arg",
"transcript": "ENST00000927320.1",
"protein_id": "ENSP00000597379.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 711,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927320.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1579G>A",
"hgvs_p": "p.Gly527Arg",
"transcript": "ENST00000927318.1",
"protein_id": "ENSP00000597377.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 709,
"cds_start": 1579,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927318.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Arg",
"transcript": "ENST00000927319.1",
"protein_id": "ENSP00000597378.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 708,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927319.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Gly520Arg",
"transcript": "ENST00000927322.1",
"protein_id": "ENSP00000597381.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 702,
"cds_start": 1558,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927322.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Gly519Arg",
"transcript": "ENST00000927321.1",
"protein_id": "ENSP00000597380.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 701,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927321.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Gly486Arg",
"transcript": "ENST00000944210.1",
"protein_id": "ENSP00000614269.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 668,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944210.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Gly467Arg",
"transcript": "ENST00000944208.1",
"protein_id": "ENSP00000614267.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 649,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944208.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Gly457Arg",
"transcript": "ENST00000944212.1",
"protein_id": "ENSP00000614271.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 639,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944212.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Gly451Arg",
"transcript": "NM_001025243.2",
"protein_id": "NP_001020414.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 633,
"cds_start": 1351,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025243.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "ENST00000944207.1",
"protein_id": "ENSP00000614266.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 611,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944207.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Gly278Arg",
"transcript": "ENST00000443220.1",
"protein_id": "ENSP00000403730.1",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 390,
"cds_start": 832,
"cds_end": null,
"cds_length": 1174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443220.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.253G>A",
"hgvs_p": "p.Gly85Arg",
"transcript": "ENST00000444254.1",
"protein_id": "ENSP00000410953.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 217,
"cds_start": 253,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444254.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Gly515Arg",
"transcript": "XM_047442097.1",
"protein_id": "XP_047298053.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 697,
"cds_start": 1543,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1618-42G>A",
"hgvs_p": null,
"transcript": "NM_001410701.1",
"protein_id": "NP_001397630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1618-42G>A",
"hgvs_p": null,
"transcript": "ENST00000429936.6",
"protein_id": "ENSP00000392662.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": null,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429936.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1615-42G>A",
"hgvs_p": null,
"transcript": "ENST00000944209.1",
"protein_id": "ENSP00000614268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IRAK1",
"gene_hgnc_id": 6112,
"hgvs_c": "c.1540-42G>A",
"hgvs_p": null,
"transcript": "NM_001025242.2",
"protein_id": "NP_001020413.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025242.2"
},
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.328,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -8,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
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"BS2"
],
"verdict": "Benign",
"transcript": "NM_001569.4",
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"effects": [
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],
"inheritance_mode": "Unknown",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}