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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: 7-44757476-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44757476&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44757476,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031449.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "NM_031449.4",
"protein_id": "NP_113637.3",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 920,
"cds_start": 467,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309315.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031449.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000309315.9",
"protein_id": "ENSP00000311778.4",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 920,
"cds_start": 467,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031449.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309315.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000441627.5",
"protein_id": "ENSP00000414723.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 920,
"cds_start": 467,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441627.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ala124Val",
"transcript": "ENST00000413916.5",
"protein_id": "ENSP00000409648.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 862,
"cds_start": 371,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413916.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884708.1",
"protein_id": "ENSP00000554767.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 929,
"cds_start": 467,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884708.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000931488.1",
"protein_id": "ENSP00000601547.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 929,
"cds_start": 467,
"cds_end": null,
"cds_length": 2790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931488.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"transcript": "ENST00000931490.1",
"protein_id": "ENSP00000601549.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 925,
"cds_start": 482,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931490.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000931484.1",
"protein_id": "ENSP00000601543.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 920,
"cds_start": 467,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931484.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000931487.1",
"protein_id": "ENSP00000601546.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 920,
"cds_start": 467,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931487.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884711.1",
"protein_id": "ENSP00000554770.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 914,
"cds_start": 467,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884711.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000931491.1",
"protein_id": "ENSP00000601550.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 914,
"cds_start": 467,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931491.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884707.1",
"protein_id": "ENSP00000554766.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884707.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884712.1",
"protein_id": "ENSP00000554771.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884712.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884713.1",
"protein_id": "ENSP00000554772.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 903,
"cds_start": 467,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884713.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884706.1",
"protein_id": "ENSP00000554765.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 897,
"cds_start": 467,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884706.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ala124Val",
"transcript": "ENST00000931486.1",
"protein_id": "ENSP00000601545.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 897,
"cds_start": 371,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931486.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "NM_174929.2",
"protein_id": "NP_777589.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 894,
"cds_start": 467,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174929.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000265346.11",
"protein_id": "ENSP00000265346.7",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 894,
"cds_start": 467,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265346.11"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ala124Val",
"transcript": "ENST00000433667.5",
"protein_id": "ENSP00000396601.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 888,
"cds_start": 371,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433667.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000944840.1",
"protein_id": "ENSP00000614899.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 888,
"cds_start": 467,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944840.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"transcript": "ENST00000884710.1",
"protein_id": "ENSP00000554769.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 876,
"cds_start": 467,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884710.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMIZ2",
"gene_hgnc_id": 22229,
"hgvs_c": "c.371C>T",
"hgvs_p": "p.Ala124Val",
"transcript": "NM_001300959.2",
"protein_id": "NP_001287888.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 862,
"cds_start": 371,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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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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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 5,
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"gene_symbol": "ZMIZ2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000416856.5"
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],
"gene_symbol": "ZMIZ2",
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"dbsnp": "rs764164101",
"frequency_reference_population": 0.000019342167,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000193021,
"gnomad_genomes_af": 0.0000197244,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.208987295627594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.2,
"revel_prediction": "Benign",
"alphamissense_score": 0.7439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.294,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031449.4",
"gene_symbol": "ZMIZ2",
"hgnc_id": 22229,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val"
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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
}