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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: 20-47236391-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=47236391&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 47236391,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363714.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "NM_001281775.3",
"protein_id": "NP_001268704.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471951.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281775.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000471951.7",
"protein_id": "ENSP00000420095.2",
"transcript_support_level": 1,
"aa_start": 931,
"aa_end": null,
"aa_length": 1234,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001281775.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471951.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "ENST00000446994.6",
"protein_id": "ENSP00000396725.3",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446994.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Ala885Thr",
"transcript": "ENST00000461685.5",
"protein_id": "ENSP00000418210.1",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461685.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "ENST00000311275.11",
"protein_id": "ENSP00000312237.7",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311275.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2593G>A",
"hgvs_p": "p.Ala865Thr",
"transcript": "ENST00000262975.8",
"protein_id": "ENSP00000262975.4",
"transcript_support_level": 1,
"aa_start": 865,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2593,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262975.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Ala885Thr",
"transcript": "ENST00000352431.6",
"protein_id": "ENSP00000335537.3",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2653,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352431.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Ala860Thr",
"transcript": "ENST00000617418.4",
"protein_id": "ENSP00000479806.2",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617418.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Ala860Thr",
"transcript": "ENST00000360911.7",
"protein_id": "ENSP00000354166.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2578,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360911.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2575G>A",
"hgvs_p": "p.Ala859Thr",
"transcript": "ENST00000540497.5",
"protein_id": "ENSP00000443086.3",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2575,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540497.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2371G>A",
"hgvs_p": "p.Ala791Thr",
"transcript": "ENST00000467200.6",
"protein_id": "ENSP00000418495.2",
"transcript_support_level": 1,
"aa_start": 791,
"aa_end": null,
"aa_length": 1094,
"cds_start": 2371,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467200.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Ala784Thr",
"transcript": "ENST00000611941.4",
"protein_id": "ENSP00000482048.1",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611941.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Ala779Thr",
"transcript": "ENST00000458360.6",
"protein_id": "ENSP00000392964.2",
"transcript_support_level": 1,
"aa_start": 779,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2335,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458360.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "ENST00000962293.1",
"protein_id": "ENSP00000632352.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1258,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962293.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "NM_001363714.1",
"protein_id": "NP_001350643.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363714.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "ENST00000536340.5",
"protein_id": "ENSP00000439800.1",
"transcript_support_level": 2,
"aa_start": 938,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536340.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "NM_001281773.3",
"protein_id": "NP_001268702.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281773.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2731G>A",
"hgvs_p": "p.Ala911Thr",
"transcript": "ENST00000355972.8",
"protein_id": "ENSP00000348246.4",
"transcript_support_level": 2,
"aa_start": 911,
"aa_end": null,
"aa_length": 1214,
"cds_start": 2731,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355972.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2716G>A",
"hgvs_p": "p.Ala906Thr",
"transcript": "ENST00000906034.1",
"protein_id": "ENSP00000576093.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 1209,
"cds_start": 2716,
"cds_end": null,
"cds_length": 3630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906034.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2791G>A",
"hgvs_p": "p.Ala931Thr",
"transcript": "NM_001281783.3",
"protein_id": "NP_001268712.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2791,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281783.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Ala893Thr",
"transcript": "ENST00000914345.1",
"protein_id": "ENSP00000584404.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2677,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914345.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYND8",
"gene_hgnc_id": 9397,
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Ala885Thr",
"transcript": "NM_183047.4",
"protein_id": "NP_898868.1",
"transcript_support_level": null,
"aa_start": 885,
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"bayesdelnoaf_score": -0.36,
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{
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"BS2"
],
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],
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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
}