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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: 8-74360225-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74360225&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 74360225,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000220822.12",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "NM_018972.4",
"protein_id": "NP_061845.2",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 358,
"cds_start": 399,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "ENST00000220822.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000220822.12",
"protein_id": "ENSP00000220822.7",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 358,
"cds_start": 399,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": "NM_018972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.267G>A",
"hgvs_p": "p.Met89Ile",
"transcript": "ENST00000434412.3",
"protein_id": "ENSP00000417006.3",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 314,
"cds_start": 267,
"cds_end": null,
"cds_length": 945,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000675463.1",
"protein_id": "ENSP00000502327.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 384,
"cds_start": 399,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000676112.1",
"protein_id": "ENSP00000502295.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 380,
"cds_start": 399,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000675165.1",
"protein_id": "ENSP00000502612.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 357,
"cds_start": 399,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.351G>A",
"hgvs_p": "p.Met117Ile",
"transcript": "ENST00000676443.1",
"protein_id": "ENSP00000501769.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 342,
"cds_start": 351,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000674710.1",
"protein_id": "ENSP00000502762.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 307,
"cds_start": 399,
"cds_end": null,
"cds_length": 924,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000675999.1",
"protein_id": "ENSP00000502572.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 295,
"cds_start": 399,
"cds_end": null,
"cds_length": 888,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Met65Ile",
"transcript": "NM_001040875.4",
"protein_id": "NP_001035808.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 290,
"cds_start": 195,
"cds_end": null,
"cds_length": 873,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Met65Ile",
"transcript": "ENST00000674865.1",
"protein_id": "ENSP00000502437.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 290,
"cds_start": 195,
"cds_end": null,
"cds_length": 873,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Met65Ile",
"transcript": "ENST00000675944.1",
"protein_id": "ENSP00000502673.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 290,
"cds_start": 195,
"cds_end": null,
"cds_length": 873,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "NM_001362931.2",
"protein_id": "NP_001349860.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 263,
"cds_start": 399,
"cds_end": null,
"cds_length": 792,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile",
"transcript": "ENST00000676207.1",
"protein_id": "ENSP00000502638.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 263,
"cds_start": 399,
"cds_end": null,
"cds_length": 792,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "NM_001362929.2",
"protein_id": "NP_001349858.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
"cds_end": null,
"cds_length": 750,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "NM_001362932.2",
"protein_id": "NP_001349861.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
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"cdna_start": 265,
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"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000674612.1",
"protein_id": "ENSP00000501864.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
"cds_end": null,
"cds_length": 750,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000674806.1",
"protein_id": "ENSP00000502637.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
"cds_end": null,
"cds_length": 750,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000675220.1",
"protein_id": "ENSP00000502588.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
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"cdna_start": 255,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000675376.1",
"protein_id": "ENSP00000502838.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
"cds_end": null,
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"cdna_start": 406,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000675821.1",
"protein_id": "ENSP00000502198.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
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"cds_start": 72,
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"cds_length": 750,
"cdna_start": 438,
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"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000676143.1",
"protein_id": "ENSP00000502828.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 249,
"cds_start": 72,
"cds_end": null,
"cds_length": 750,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GDAP1",
"gene_hgnc_id": 15968,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Met24Ile",
"transcript": "ENST00000676377.1",
"protein_id": "ENSP00000502756.1",
"transcript_support_level": null,
"aa_start": 24,
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"acmg_criteria": "PM1,PP2,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000220822.12",
"gene_symbol": "GDAP1",
"hgnc_id": 15968,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Met133Ile"
}
],
"clinvar_disease": " autosomal recessive, axonal, with vocal cord paresis,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2K,Charcot-Marie-Tooth disease recessive intermediate A,Charcot-Marie-Tooth disease type 4A,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:3 US:3",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}