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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: 8-74364060-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74364060&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74364060,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000220822.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "NM_018972.4",
"protein_id": "NP_061845.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 358,
"cds_start": 770,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "ENST00000220822.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000220822.12",
"protein_id": "ENSP00000220822.7",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 358,
"cds_start": 770,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "NM_018972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.638G>A",
"hgvs_p": "p.Arg213Gln",
"transcript": "ENST00000434412.3",
"protein_id": "ENSP00000417006.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 314,
"cds_start": 638,
"cds_end": null,
"cds_length": 945,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.848G>A",
"hgvs_p": "p.Arg283Gln",
"transcript": "ENST00000675463.1",
"protein_id": "ENSP00000502327.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 384,
"cds_start": 848,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.836G>A",
"hgvs_p": "p.Arg279Gln",
"transcript": "ENST00000676112.1",
"protein_id": "ENSP00000502295.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 380,
"cds_start": 836,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.767G>A",
"hgvs_p": "p.Arg256Gln",
"transcript": "ENST00000675165.1",
"protein_id": "ENSP00000502612.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 357,
"cds_start": 767,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.722G>A",
"hgvs_p": "p.Arg241Gln",
"transcript": "ENST00000676443.1",
"protein_id": "ENSP00000501769.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 342,
"cds_start": 722,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.596G>A",
"hgvs_p": "p.Arg199Gln",
"transcript": "NM_001362930.2",
"protein_id": "NP_001349859.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 596,
"cds_end": null,
"cds_length": 903,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.596G>A",
"hgvs_p": "p.Arg199Gln",
"transcript": "ENST00000675928.1",
"protein_id": "ENSP00000501568.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 300,
"cds_start": 596,
"cds_end": null,
"cds_length": 903,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "NM_001040875.4",
"protein_id": "NP_001035808.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 290,
"cds_start": 566,
"cds_end": null,
"cds_length": 873,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "ENST00000674865.1",
"protein_id": "ENSP00000502437.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 290,
"cds_start": 566,
"cds_end": null,
"cds_length": 873,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.566G>A",
"hgvs_p": "p.Arg189Gln",
"transcript": "ENST00000675944.1",
"protein_id": "ENSP00000502673.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 290,
"cds_start": 566,
"cds_end": null,
"cds_length": 873,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.464G>A",
"hgvs_p": "p.Arg155Gln",
"transcript": "ENST00000674973.1",
"protein_id": "ENSP00000502447.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 256,
"cds_start": 464,
"cds_end": null,
"cds_length": 771,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_001362929.2",
"protein_id": "NP_001349858.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_001362932.2",
"protein_id": "NP_001349861.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000674612.1",
"protein_id": "ENSP00000501864.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
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"cds_start": 443,
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"cdna_start": 609,
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"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000674806.1",
"protein_id": "ENSP00000502637.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000675220.1",
"protein_id": "ENSP00000502588.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000675376.1",
"protein_id": "ENSP00000502838.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
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"cds_start": 443,
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"cdna_start": 777,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000675821.1",
"protein_id": "ENSP00000502198.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
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"cds_start": 443,
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"cdna_start": 809,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000676143.1",
"protein_id": "ENSP00000502828.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000676377.1",
"protein_id": "ENSP00000502756.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 249,
"cds_start": 443,
"cds_end": null,
"cds_length": 750,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.443G>A",
"hgvs_p": "p.Arg148Gln",
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