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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: 3-21425607-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=21425607&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 21425607,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024697.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"transcript": "NM_024697.3",
"protein_id": "NP_078973.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 395,
"cds_start": 737,
"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": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys",
"transcript": "ENST00000281523.8",
"protein_id": "ENSP00000281523.2",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 395,
"cds_start": 737,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Lys",
"transcript": "ENST00000706131.1",
"protein_id": "ENSP00000516216.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 515,
"cds_start": 1097,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Lys",
"transcript": "ENST00000494108.3",
"protein_id": "ENSP00000495609.3",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 496,
"cds_start": 1040,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "ENST00000963857.1",
"protein_id": "ENSP00000633916.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 414,
"cds_start": 794,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Lys",
"transcript": "ENST00000706134.1",
"protein_id": "ENSP00000516219.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 392,
"cds_start": 728,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209Lys",
"transcript": "ENST00000871533.1",
"protein_id": "ENSP00000541592.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 358,
"cds_start": 626,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Lys",
"transcript": "XM_017007191.2",
"protein_id": "XP_016862680.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 515,
"cds_start": 1097,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Lys",
"transcript": "XM_017007192.2",
"protein_id": "XP_016862681.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 496,
"cds_start": 1040,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Arg295Lys",
"transcript": "XM_017007193.2",
"protein_id": "XP_016862682.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 444,
"cds_start": 884,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282Lys",
"transcript": "XM_047448956.1",
"protein_id": "XP_047304912.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 431,
"cds_start": 845,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.839G>A",
"hgvs_p": "p.Arg280Lys",
"transcript": "XM_017007195.2",
"protein_id": "XP_016862684.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 429,
"cds_start": 839,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Lys",
"transcript": "XM_017007196.2",
"protein_id": "XP_016862685.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 414,
"cds_start": 794,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.785G>A",
"hgvs_p": "p.Arg262Lys",
"transcript": "XM_017007197.2",
"protein_id": "XP_016862686.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 411,
"cds_start": 785,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Lys",
"transcript": "XM_017007198.2",
"protein_id": "XP_016862687.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 410,
"cds_start": 782,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.782G>A",
"hgvs_p": "p.Arg261Lys",
"transcript": "XM_047448958.1",
"protein_id": "XP_047304914.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 410,
"cds_start": 782,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Lys",
"transcript": "XM_047448959.1",
"protein_id": "XP_047304915.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 392,
"cds_start": 728,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Lys",
"transcript": "XM_047448960.1",
"protein_id": "XP_047304916.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 391,
"cds_start": 725,
"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": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Lys",
"transcript": "XM_017007199.2",
"protein_id": "XP_016862688.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 362,
"cds_start": 638,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007199.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210Lys",
"transcript": "XM_017007200.3",
"protein_id": "XP_016862689.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 359,
"cds_start": 629,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007200.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152Lys",
"transcript": "XM_017007201.2",
"protein_id": "XP_016862690.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 301,
"cds_start": 455,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007201.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Lys",
"transcript": "XM_017007202.2",
"protein_id": "XP_016862691.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 262,
"cds_start": 338,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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"biotype": "pseudogene",
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{
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{
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{
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],
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{
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{
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"3_prime_UTR_variant"
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"gene_symbol": "ZNF385D",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000706133.1"
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],
"gene_symbol": "ZNF385D",
"gene_hgnc_id": 26191,
"dbsnp": "rs764537413",
"frequency_reference_population": 0.00001992394,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000151301,
"gnomad_genomes_af": 0.0000657661,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44576674699783325,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.8101,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.871,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_024697.3",
"gene_symbol": "ZNF385D",
"hgnc_id": 26191,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Lys"
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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
}