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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: 3-21437054-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=21437054&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 21437054,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024697.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"transcript": "NM_024697.3",
"protein_id": "NP_078973.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 395,
"cds_start": 589,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281523.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024697.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Glu197Lys",
"transcript": "ENST00000281523.8",
"protein_id": "ENSP00000281523.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 395,
"cds_start": 589,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024697.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281523.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"transcript": "ENST00000494118.5",
"protein_id": "ENSP00000493727.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494118.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"transcript": "ENST00000494118.5",
"protein_id": "ENSP00000493727.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000494118.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Glu317Lys",
"transcript": "ENST00000706131.1",
"protein_id": "ENSP00000516216.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 515,
"cds_start": 949,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706131.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "ENST00000494108.3",
"protein_id": "ENSP00000495609.3",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 496,
"cds_start": 892,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494108.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "ENST00000963857.1",
"protein_id": "ENSP00000633916.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 414,
"cds_start": 646,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963857.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Glu194Lys",
"transcript": "ENST00000706134.1",
"protein_id": "ENSP00000516219.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 392,
"cds_start": 580,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706134.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Glu160Lys",
"transcript": "ENST00000871533.1",
"protein_id": "ENSP00000541592.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 358,
"cds_start": 478,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871533.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Glu111Lys",
"transcript": "ENST00000495739.1",
"protein_id": "ENSP00000498106.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 156,
"cds_start": 331,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495739.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Glu317Lys",
"transcript": "XM_017007191.2",
"protein_id": "XP_016862680.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 515,
"cds_start": 949,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007191.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Glu298Lys",
"transcript": "XM_017007192.2",
"protein_id": "XP_016862681.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 496,
"cds_start": 892,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007192.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Glu246Lys",
"transcript": "XM_017007193.2",
"protein_id": "XP_016862682.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 444,
"cds_start": 736,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007193.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Glu233Lys",
"transcript": "XM_047448956.1",
"protein_id": "XP_047304912.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 431,
"cds_start": 697,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448956.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Glu231Lys",
"transcript": "XM_017007195.2",
"protein_id": "XP_016862684.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 429,
"cds_start": 691,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007195.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Glu216Lys",
"transcript": "XM_017007196.2",
"protein_id": "XP_016862685.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 414,
"cds_start": 646,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007196.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Glu213Lys",
"transcript": "XM_017007197.2",
"protein_id": "XP_016862686.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 411,
"cds_start": 637,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007197.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Glu212Lys",
"transcript": "XM_017007198.2",
"protein_id": "XP_016862687.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 410,
"cds_start": 634,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007198.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.634G>A",
"hgvs_p": "p.Glu212Lys",
"transcript": "XM_047448958.1",
"protein_id": "XP_047304914.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 410,
"cds_start": 634,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448958.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Glu194Lys",
"transcript": "XM_047448959.1",
"protein_id": "XP_047304915.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 392,
"cds_start": 580,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448959.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "XM_047448960.1",
"protein_id": "XP_047304916.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 391,
"cds_start": 577,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448960.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Glu164Lys",
"transcript": "XM_017007199.2",
"protein_id": "XP_016862688.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 362,
"cds_start": 490,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"revel_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}