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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: 2-231124-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231124&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231124,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015677.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "NM_015677.4",
"protein_id": "NP_056492.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 342,
"cds_start": 601,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356150.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015677.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000356150.10",
"protein_id": "ENSP00000348471.5",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 342,
"cds_start": 601,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015677.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356150.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000403712.6",
"protein_id": "ENSP00000384276.1",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 323,
"cds_start": 601,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403712.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000626873.2",
"protein_id": "ENSP00000485824.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 246,
"cds_start": 313,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626873.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.2273G>A",
"hgvs_p": null,
"transcript": "ENST00000468321.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468321.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "n.1434G>A",
"hgvs_p": null,
"transcript": "ENST00000473104.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000473104.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000890691.1",
"protein_id": "ENSP00000560750.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 378,
"cds_start": 601,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890691.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000971972.1",
"protein_id": "ENSP00000642031.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 359,
"cds_start": 601,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971972.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "ENST00000405430.5",
"protein_id": "ENSP00000384269.1",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 342,
"cds_start": 601,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405430.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000971971.1",
"protein_id": "ENSP00000642030.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 335,
"cds_start": 472,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971971.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.601G>A",
"hgvs_p": "p.Glu201Lys",
"transcript": "NM_001159597.3",
"protein_id": "NP_001153069.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 323,
"cds_start": 601,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159597.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000936193.1",
"protein_id": "ENSP00000606252.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 316,
"cds_start": 472,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936193.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Glu158Lys",
"transcript": "ENST00000890690.1",
"protein_id": "ENSP00000560749.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 299,
"cds_start": 472,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890690.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Glu163Lys",
"transcript": "ENST00000936192.1",
"protein_id": "ENSP00000606251.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 285,
"cds_start": 487,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936192.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Glu133Lys",
"transcript": "ENST00000451005.5",
"protein_id": "ENSP00000416312.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 255,
"cds_start": 397,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451005.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001282687.2",
"protein_id": "NP_001269616.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 246,
"cds_start": 313,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282687.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.469G>A",
"hgvs_p": "p.Glu157Lys",
"transcript": "ENST00000431160.5",
"protein_id": "ENSP00000399519.1",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 230,
"cds_start": 469,
"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": "ENST00000431160.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "NM_001282682.2",
"protein_id": "NP_001269611.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 313,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282682.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000403657.5",
"protein_id": "ENSP00000385668.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 313,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403657.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Glu105Lys",
"transcript": "ENST00000403658.5",
"protein_id": "ENSP00000383928.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 227,
"cds_start": 313,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403658.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Glu47Lys",
"transcript": "ENST00000481932.1",
"protein_id": "ENSP00000474411.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 97,
"cds_start": 139,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481932.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SH3YL1",
"gene_hgnc_id": 29546,
"hgvs_c": "c.292-1080G>A",
"hgvs_p": null,
"transcript": "ENST00000971970.1",
"protein_id": "ENSP00000642029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": null,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971970.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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],
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"computational_score_selected": 0.05326813459396362,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.88,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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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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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_015677.4",
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"effects": [
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],
"inheritance_mode": "AR",
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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
}