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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: 3-11017434-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11017434&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11017434,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000287766.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "NM_003042.4",
"protein_id": "NP_003033.3",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "ENST00000287766.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000287766.10",
"protein_id": "ENSP00000287766.4",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4478,
"mane_select": "NM_003042.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.295G>C",
"hgvs_p": "p.Gly99Arg",
"transcript": "ENST00000698198.1",
"protein_id": "ENSP00000513602.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 623,
"cds_start": 295,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000644803.1",
"protein_id": "ENSP00000494469.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 608,
"cds_start": 223,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "NM_001348250.2",
"protein_id": "NP_001335179.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 4417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642201.1",
"protein_id": "ENSP00000494778.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642515.1",
"protein_id": "ENSP00000496348.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642639.1",
"protein_id": "ENSP00000494191.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642735.1",
"protein_id": "ENSP00000494050.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642767.1",
"protein_id": "ENSP00000494346.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000642820.1",
"protein_id": "ENSP00000495900.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000643396.1",
"protein_id": "ENSP00000494136.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2964,
"cdna_end": null,
"cdna_length": 6767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000643498.1",
"protein_id": "ENSP00000494997.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000645029.1",
"protein_id": "ENSP00000496171.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
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"cdna_start": 663,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000645054.1",
"protein_id": "ENSP00000495751.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 4612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000645592.1",
"protein_id": "ENSP00000496619.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
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"cds_start": 223,
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"cdna_start": 544,
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"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000645974.1",
"protein_id": "ENSP00000496390.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000646022.1",
"protein_id": "ENSP00000494134.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000646060.1",
"protein_id": "ENSP00000496302.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
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"cds_start": 223,
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"cdna_start": 814,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000646570.1",
"protein_id": "ENSP00000496064.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
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"cdna_start": 929,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000646702.1",
"protein_id": "ENSP00000496697.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000646924.1",
"protein_id": "ENSP00000493591.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 599,
"cds_start": 223,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 4541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A1",
"gene_hgnc_id": 11042,
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg",
"transcript": "ENST00000647194.1",
"protein_id": "ENSP00000496238.1",
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},
{
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},
{
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],
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},
{
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],
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}
],
"gene_symbol": "SLC6A1",
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"dbsnp": "rs1064795852",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8493595123291016,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.58,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9801,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.654,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.15,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PM2,PM5,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000287766.10",
"gene_symbol": "SLC6A1",
"hgnc_id": 11042,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.223G>C",
"hgvs_p": "p.Gly75Arg"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000414969.2",
"gene_symbol": "SLC6A1-AS1",
"hgnc_id": 40546,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.105+1686C>G",
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}
],
"clinvar_disease": "Epilepsy with myoclonic atonic seizures",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Epilepsy with myoclonic atonic seizures",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}