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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: 11-35315089-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35315089&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 35315089,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000278379.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "NM_004171.4",
"protein_id": "NP_004162.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 574,
"cds_start": 244,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "ENST00000278379.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "ENST00000278379.9",
"protein_id": "ENSP00000278379.3",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 574,
"cds_start": 244,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 12006,
"mane_select": "NM_004171.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Gly78Arg",
"transcript": "ENST00000395750.6",
"protein_id": "ENSP00000379099.2",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 570,
"cds_start": 232,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.355G>C",
"hgvs_p": "p.Gly119Arg",
"transcript": "ENST00000644779.1",
"protein_id": "ENSP00000494258.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 611,
"cds_start": 355,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "ENST00000643134.1",
"protein_id": "ENSP00000495188.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 582,
"cds_start": 244,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 2138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Gly87Arg",
"transcript": "ENST00000645303.1",
"protein_id": "ENSP00000496667.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 579,
"cds_start": 259,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 3952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "ENST00000531628.2",
"protein_id": "ENSP00000436029.2",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 573,
"cds_start": 244,
"cds_end": null,
"cds_length": 1724,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000646080.1",
"protein_id": "ENSP00000494113.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 571,
"cds_start": 235,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.232G>C",
"hgvs_p": "p.Gly78Arg",
"transcript": "NM_001439342.1",
"protein_id": "NP_001426271.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 570,
"cds_start": 232,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 11520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "NM_001195728.3",
"protein_id": "NP_001182657.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 11639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "NM_001252652.2",
"protein_id": "NP_001239581.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "NM_001439341.1",
"protein_id": "NP_001426270.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000395753.6",
"protein_id": "ENSP00000379102.1",
"transcript_support_level": 2,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000643000.1",
"protein_id": "ENSP00000495164.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
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"cdna_start": 332,
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"cdna_length": 3343,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000644050.1",
"protein_id": "ENSP00000496123.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 4086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000644299.1",
"protein_id": "ENSP00000494669.1",
"transcript_support_level": null,
"aa_start": 73,
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"cds_start": 217,
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"cdna_start": 389,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000645194.1",
"protein_id": "ENSP00000496093.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
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"cds_length": 1698,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000645634.1",
"protein_id": "ENSP00000493945.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 565,
"cds_start": 217,
"cds_end": null,
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"cdna_start": 539,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.217G>C",
"hgvs_p": "p.Gly73Arg",
"transcript": "ENST00000647104.1",
"protein_id": "ENSP00000494025.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
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"cdna_start": 396,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "ENST00000643305.1",
"protein_id": "ENSP00000494828.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 563,
"cds_start": 244,
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"cdna_start": 831,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.244G>C",
"hgvs_p": "p.Gly82Arg",
"transcript": "ENST00000642171.1",
"protein_id": "ENSP00000495538.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 562,
"cds_start": 244,
"cds_end": null,
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"cdna_start": 491,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000643454.1",
"protein_id": "ENSP00000495126.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 560,
"cds_start": 235,
"cds_end": null,
"cds_length": 1683,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC1A2",
"gene_hgnc_id": 10940,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Gly79Arg",
"transcript": "ENST00000644868.1",
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
"alphamissense_score": 0.999,
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"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.869,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"dbscsnv_ada_score": null,
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000278379.9",
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"effects": [
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"inheritance_mode": "AD,AR",
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],
"clinvar_disease": " 41,Developmental and epileptic encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Developmental and epileptic encephalopathy, 41",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}