← Back to variant description
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: 20-57615578-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=57615578&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 57615578,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000371173.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "NM_030776.3",
"protein_id": "NP_110403.2",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 429,
"cds_start": 262,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": "ENST00000371173.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "ENST00000371173.8",
"protein_id": "ENSP00000360215.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 429,
"cds_start": 262,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": "NM_030776.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "NM_001160417.2",
"protein_id": "NP_001153889.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 428,
"cds_start": 262,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Glu13Lys",
"transcript": "NM_001160418.2",
"protein_id": "NP_001153890.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 354,
"cds_start": 37,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Glu13Lys",
"transcript": "ENST00000395822.7",
"protein_id": "ENSP00000379167.3",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 354,
"cds_start": 37,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "NM_001160419.3",
"protein_id": "NP_001153891.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 248,
"cds_start": 262,
"cds_end": null,
"cds_length": 747,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "ENST00000541799.1",
"protein_id": "ENSP00000440552.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 248,
"cds_start": 262,
"cds_end": null,
"cds_length": 747,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Glu13Lys",
"transcript": "NM_001323966.2",
"protein_id": "NP_001310895.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 173,
"cds_start": 37,
"cds_end": null,
"cds_length": 522,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "XM_011529058.3",
"protein_id": "XP_011527360.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 357,
"cds_start": 262,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Glu13Lys",
"transcript": "XM_047440525.1",
"protein_id": "XP_047296481.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 353,
"cds_start": 37,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.37G>A",
"hgvs_p": "p.Glu13Lys",
"transcript": "XM_047440526.1",
"protein_id": "XP_047296482.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 299,
"cds_start": 37,
"cds_end": null,
"cds_length": 900,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys",
"transcript": "XM_047440527.1",
"protein_id": "XP_047296483.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 228,
"cds_start": 262,
"cds_end": null,
"cds_length": 687,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.457G>A",
"hgvs_p": null,
"transcript": "ENST00000432548.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.2504G>A",
"hgvs_p": null,
"transcript": "ENST00000461547.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.1057G>A",
"hgvs_p": null,
"transcript": "ENST00000480037.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.488G>A",
"hgvs_p": null,
"transcript": "ENST00000538947.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.222G>A",
"hgvs_p": null,
"transcript": "ENST00000546110.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.168G>A",
"hgvs_p": null,
"transcript": "NR_136660.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "XR_001754408.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "XR_007067477.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "XR_007067478.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "XR_007067479.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.168G>A",
"hgvs_p": null,
"transcript": "XR_007067480.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"hgvs_c": "n.168G>A",
"hgvs_p": null,
"transcript": "XR_007067481.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBP1",
"gene_hgnc_id": 16176,
"dbsnp": "rs2073145",
"frequency_reference_population": 0.6793521,
"hom_count_reference_population": 379339,
"allele_count_reference_population": 1094708,
"gnomad_exomes_af": 0.688897,
"gnomad_genomes_af": 0.587602,
"gnomad_exomes_ac": 1005490,
"gnomad_genomes_ac": 89218,
"gnomad_exomes_homalt": 350718,
"gnomad_genomes_homalt": 28621,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 9.335292361356551e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.387,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000371173.8",
"gene_symbol": "ZBP1",
"hgnc_id": 16176,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Glu88Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}