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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: 20-2483283-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=2483283&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 2483283,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282497.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "NM_024325.6",
"protein_id": "NP_077301.4",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": "ENST00000278772.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024325.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000278772.9",
"protein_id": "ENSP00000278772.4",
"transcript_support_level": 2,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": "NM_024325.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278772.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256566",
"gene_hgnc_id": null,
"hgvs_c": "n.304+9416C>G",
"hgvs_p": null,
"transcript": "ENST00000461548.1",
"protein_id": "ENSP00000456213.1",
"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": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000461548.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "NM_001282497.2",
"protein_id": "NP_001269426.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282497.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "NM_001321801.2",
"protein_id": "NP_001308730.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321801.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000612935.4",
"protein_id": "ENSP00000482819.1",
"transcript_support_level": 5,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612935.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000911238.1",
"protein_id": "ENSP00000581297.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2072,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911238.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000928352.1",
"protein_id": "ENSP00000598411.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928352.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Arg601Gly",
"transcript": "ENST00000952206.1",
"protein_id": "ENSP00000622265.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 640,
"cds_start": 1801,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952206.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"transcript": "NM_001321802.2",
"protein_id": "NP_001308731.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 639,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321802.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"transcript": "NM_001321803.2",
"protein_id": "NP_001308732.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 639,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2150,
"cdna_end": null,
"cdna_length": 3616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321803.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"transcript": "ENST00000911237.1",
"protein_id": "ENSP00000581296.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 639,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911237.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"transcript": "ENST00000952204.1",
"protein_id": "ENSP00000622263.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 639,
"cds_start": 1798,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952204.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1699C>G",
"hgvs_p": "p.Arg567Gly",
"transcript": "ENST00000952205.1",
"protein_id": "ENSP00000622264.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 606,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952205.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "NM_001282495.1",
"protein_id": "NP_001269424.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282495.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "NM_001282496.2",
"protein_id": "NP_001269425.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282496.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "NM_001321800.2",
"protein_id": "NP_001308729.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321800.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000911235.1",
"protein_id": "ENSP00000581294.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911235.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000911236.1",
"protein_id": "ENSP00000581295.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 4115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911236.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000911239.1",
"protein_id": "ENSP00000581298.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1907,
"cdna_end": null,
"cdna_length": 3373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911239.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000911241.1",
"protein_id": "ENSP00000581300.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911241.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF343",
"gene_hgnc_id": 16017,
"hgvs_c": "c.1678C>G",
"hgvs_p": "p.Arg560Gly",
"transcript": "ENST00000928351.1",
"protein_id": "ENSP00000598410.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 599,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 2022,
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}
],
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}