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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: 3-44557290-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=44557290&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 44557290,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018651.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "NM_001288590.2",
"protein_id": "NP_001275519.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 754,
"cds_start": 243,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426540.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288590.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000426540.6",
"protein_id": "ENSP00000395524.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 754,
"cds_start": 243,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001288590.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426540.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000273320.7",
"protein_id": "ENSP00000273320.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 754,
"cds_start": 243,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273320.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000341840.7",
"protein_id": "ENSP00000345404.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 276,
"cds_start": 243,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341840.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000431636.5",
"protein_id": "ENSP00000416681.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 276,
"cds_start": 243,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431636.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.-28+1809G>T",
"hgvs_p": null,
"transcript": "ENST00000447279.2",
"protein_id": "ENSP00000405034.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447279.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "NM_018651.4",
"protein_id": "NP_061121.2",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 754,
"cds_start": 243,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018651.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000896017.1",
"protein_id": "ENSP00000566076.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 753,
"cds_start": 243,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896017.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000896018.1",
"protein_id": "ENSP00000566077.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 753,
"cds_start": 243,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896018.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000946797.1",
"protein_id": "ENSP00000616856.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 681,
"cds_start": 243,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946797.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000946798.1",
"protein_id": "ENSP00000616857.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 681,
"cds_start": 243,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946798.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000946799.1",
"protein_id": "ENSP00000616858.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 680,
"cds_start": 243,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946799.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000896019.1",
"protein_id": "ENSP00000566078.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 667,
"cds_start": 243,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896019.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000946801.1",
"protein_id": "ENSP00000616860.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 667,
"cds_start": 243,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946801.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000932839.1",
"protein_id": "ENSP00000602898.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 666,
"cds_start": 243,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932839.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "ENST00000946800.1",
"protein_id": "ENSP00000616859.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 666,
"cds_start": 243,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946800.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "NM_001288591.2",
"protein_id": "NP_001275520.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 276,
"cds_start": 243,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288591.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "NM_025169.3",
"protein_id": "NP_079445.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 276,
"cds_start": 243,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025169.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "XM_047448578.1",
"protein_id": "XP_047304534.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 753,
"cds_start": 243,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448578.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "XM_047448579.1",
"protein_id": "XP_047304535.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 753,
"cds_start": 243,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448579.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "XM_047448581.1",
"protein_id": "XP_047304537.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 292,
"cds_start": 243,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448581.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZKSCAN7",
"gene_hgnc_id": 12955,
"hgvs_c": "c.243G>T",
"hgvs_p": "p.Trp81Cys",
"transcript": "XM_047448582.1",
"protein_id": "XP_047304538.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 292,
"cds_start": 243,
"cds_end": null,
"cds_length": 879,
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_018651.4",
"gene_symbol": "ZKSCAN7",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 0,
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"pathogenic_score": 0,
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"verdict": "Uncertain_significance",
"transcript": "ENST00000457331.3",
"gene_symbol": "ZKSCAN7-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.546C>A",
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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
}