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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: 2-219381413-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219381413&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219381413,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001319116.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1161C>G",
"hgvs_p": "p.Ser387Arg",
"transcript": "NM_012100.4",
"protein_id": "NP_036232.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 485,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273075.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012100.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1161C>G",
"hgvs_p": "p.Ser387Arg",
"transcript": "ENST00000273075.9",
"protein_id": "ENSP00000273075.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 485,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012100.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273075.9"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Arg",
"transcript": "NM_001319116.2",
"protein_id": "NP_001306045.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 493,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319116.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Arg",
"transcript": "ENST00000523282.6",
"protein_id": "ENSP00000431076.1",
"transcript_support_level": 2,
"aa_start": 395,
"aa_end": null,
"aa_length": 493,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523282.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1179C>G",
"hgvs_p": "p.Ser393Arg",
"transcript": "ENST00000851982.1",
"protein_id": "ENSP00000522041.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 491,
"cds_start": 1179,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851982.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1161C>G",
"hgvs_p": "p.Ser387Arg",
"transcript": "ENST00000851983.1",
"protein_id": "ENSP00000522042.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 481,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851983.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1146C>G",
"hgvs_p": "p.Ser382Arg",
"transcript": "ENST00000851986.1",
"protein_id": "ENSP00000522045.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 480,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851986.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1140C>G",
"hgvs_p": "p.Ser380Arg",
"transcript": "ENST00000851984.1",
"protein_id": "ENSP00000522043.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 478,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851984.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1119C>G",
"hgvs_p": "p.Ser373Arg",
"transcript": "NM_001319118.2",
"protein_id": "NP_001306047.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 471,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319118.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1119C>G",
"hgvs_p": "p.Ser373Arg",
"transcript": "NM_001319119.2",
"protein_id": "NP_001306048.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 471,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319119.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1119C>G",
"hgvs_p": "p.Ser373Arg",
"transcript": "ENST00000520694.6",
"protein_id": "ENSP00000429468.2",
"transcript_support_level": 3,
"aa_start": 373,
"aa_end": null,
"aa_length": 471,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520694.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1077C>G",
"hgvs_p": "p.Ser359Arg",
"transcript": "NM_001319117.2",
"protein_id": "NP_001306046.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 457,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319117.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1077C>G",
"hgvs_p": "p.Ser359Arg",
"transcript": "ENST00000964369.1",
"protein_id": "ENSP00000634428.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 457,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964369.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Ser351Arg",
"transcript": "NM_001319120.2",
"protein_id": "NP_001306049.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 449,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319120.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1053C>G",
"hgvs_p": "p.Ser351Arg",
"transcript": "ENST00000925428.1",
"protein_id": "ENSP00000595487.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 449,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925428.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1047C>G",
"hgvs_p": "p.Ser349Arg",
"transcript": "ENST00000851985.1",
"protein_id": "ENSP00000522044.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 447,
"cds_start": 1047,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851985.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1038C>G",
"hgvs_p": "p.Ser346Arg",
"transcript": "ENST00000964371.1",
"protein_id": "ENSP00000634430.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 444,
"cds_start": 1038,
"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": "ENST00000964371.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "NM_001319121.2",
"protein_id": "NP_001306050.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 432,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319121.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.1002C>G",
"hgvs_p": "p.Ser334Arg",
"transcript": "NM_001319122.2",
"protein_id": "NP_001306051.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 432,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319122.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.936C>G",
"hgvs_p": "p.Ser312Arg",
"transcript": "ENST00000373972.5",
"protein_id": "ENSP00000363083.1",
"transcript_support_level": 2,
"aa_start": 312,
"aa_end": null,
"aa_length": 410,
"cds_start": 936,
"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": "ENST00000373972.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Ser288Arg",
"transcript": "ENST00000964370.1",
"protein_id": "ENSP00000634429.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 386,
"cds_start": 864,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNPEP",
"gene_hgnc_id": 2981,
"hgvs_c": "n.*985C>G",
"hgvs_p": null,
"transcript": "ENST00000373963.5",
"protein_id": "ENSP00000363074.1",
"transcript_support_level": 5,
"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",
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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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{
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],
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"gene_symbol": "DNPEP",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000373966.5"
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],
"gene_symbol": "DNPEP",
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"dbsnp": "rs1361567857",
"frequency_reference_population": 0.000023941544,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000239415,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7115533351898193,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.8024,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.909,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001319116.2",
"gene_symbol": "DNPEP",
"hgnc_id": 2981,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1185C>G",
"hgvs_p": "p.Ser395Arg"
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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
}