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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: 8-74364009-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74364009&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74364009,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000220822.12",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Cys240Ser",
"transcript": "NM_018972.4",
"protein_id": "NP_061845.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "ENST00000220822.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Cys240Ser",
"transcript": "ENST00000220822.12",
"protein_id": "ENSP00000220822.7",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 358,
"cds_start": 719,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "NM_018972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.587G>C",
"hgvs_p": "p.Cys196Ser",
"transcript": "ENST00000434412.3",
"protein_id": "ENSP00000417006.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 314,
"cds_start": 587,
"cds_end": null,
"cds_length": 945,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.797G>C",
"hgvs_p": "p.Cys266Ser",
"transcript": "ENST00000675463.1",
"protein_id": "ENSP00000502327.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 384,
"cds_start": 797,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Cys262Ser",
"transcript": "ENST00000676112.1",
"protein_id": "ENSP00000502295.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 380,
"cds_start": 785,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.716G>C",
"hgvs_p": "p.Cys239Ser",
"transcript": "ENST00000675165.1",
"protein_id": "ENSP00000502612.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 357,
"cds_start": 716,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.671G>C",
"hgvs_p": "p.Cys224Ser",
"transcript": "ENST00000676443.1",
"protein_id": "ENSP00000501769.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 342,
"cds_start": 671,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Cys182Ser",
"transcript": "NM_001362930.2",
"protein_id": "NP_001349859.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 300,
"cds_start": 545,
"cds_end": null,
"cds_length": 903,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.545G>C",
"hgvs_p": "p.Cys182Ser",
"transcript": "ENST00000675928.1",
"protein_id": "ENSP00000501568.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 300,
"cds_start": 545,
"cds_end": null,
"cds_length": 903,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Cys172Ser",
"transcript": "NM_001040875.4",
"protein_id": "NP_001035808.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 290,
"cds_start": 515,
"cds_end": null,
"cds_length": 873,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Cys172Ser",
"transcript": "ENST00000674865.1",
"protein_id": "ENSP00000502437.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 290,
"cds_start": 515,
"cds_end": null,
"cds_length": 873,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Cys172Ser",
"transcript": "ENST00000675944.1",
"protein_id": "ENSP00000502673.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 290,
"cds_start": 515,
"cds_end": null,
"cds_length": 873,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.413G>C",
"hgvs_p": "p.Cys138Ser",
"transcript": "ENST00000674973.1",
"protein_id": "ENSP00000502447.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 256,
"cds_start": 413,
"cds_end": null,
"cds_length": 771,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "NM_001362929.2",
"protein_id": "NP_001349858.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "NM_001362932.2",
"protein_id": "NP_001349861.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000674612.1",
"protein_id": "ENSP00000501864.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000674806.1",
"protein_id": "ENSP00000502637.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000675220.1",
"protein_id": "ENSP00000502588.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000675376.1",
"protein_id": "ENSP00000502838.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000675821.1",
"protein_id": "ENSP00000502198.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000676143.1",
"protein_id": "ENSP00000502828.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "ENST00000676377.1",
"protein_id": "ENSP00000502756.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 249,
"cds_start": 392,
"cds_end": null,
"cds_length": 750,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.392G>C",
"hgvs_p": "p.Cys131Ser",
"transcript": "XM_047421902.1",
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}