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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: 2-8730821-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=8730821&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 8730821,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001348729.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5215C>T",
"hgvs_p": "p.Arg1739Cys",
"transcript": "NM_020738.4",
"protein_id": "NP_065789.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1771,
"cds_start": 5215,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256707.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020738.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5215C>T",
"hgvs_p": "p.Arg1739Cys",
"transcript": "ENST00000256707.8",
"protein_id": "ENSP00000256707.4",
"transcript_support_level": 1,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1771,
"cds_start": 5215,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020738.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256707.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*5104C>T",
"hgvs_p": null,
"transcript": "ENST00000488729.5",
"protein_id": "ENSP00000417390.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488729.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "n.*5104C>T",
"hgvs_p": null,
"transcript": "ENST00000488729.5",
"protein_id": "ENSP00000417390.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488729.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5218C>T",
"hgvs_p": "p.Arg1740Cys",
"transcript": "NM_001348729.2",
"protein_id": "NP_001335658.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 1772,
"cds_start": 5218,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348729.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5218C>T",
"hgvs_p": "p.Arg1740Cys",
"transcript": "ENST00000959946.1",
"protein_id": "ENSP00000630005.1",
"transcript_support_level": null,
"aa_start": 1740,
"aa_end": null,
"aa_length": 1772,
"cds_start": 5218,
"cds_end": null,
"cds_length": 5319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959946.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5215C>T",
"hgvs_p": "p.Arg1739Cys",
"transcript": "ENST00000959948.1",
"protein_id": "ENSP00000630007.1",
"transcript_support_level": null,
"aa_start": 1739,
"aa_end": null,
"aa_length": 1771,
"cds_start": 5215,
"cds_end": null,
"cds_length": 5316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959948.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Cys",
"transcript": "ENST00000691030.1",
"protein_id": "ENSP00000510148.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1764,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691030.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5161C>T",
"hgvs_p": "p.Arg1721Cys",
"transcript": "NM_001348731.2",
"protein_id": "NP_001335660.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5161,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348731.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5161C>T",
"hgvs_p": "p.Arg1721Cys",
"transcript": "ENST00000882910.1",
"protein_id": "ENSP00000552969.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5161,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882910.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5161C>T",
"hgvs_p": "p.Arg1721Cys",
"transcript": "ENST00000933256.1",
"protein_id": "ENSP00000603315.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5161,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933256.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5158C>T",
"hgvs_p": "p.Arg1720Cys",
"transcript": "NM_001348732.2",
"protein_id": "NP_001335661.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348732.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5158C>T",
"hgvs_p": "p.Arg1720Cys",
"transcript": "ENST00000473731.5",
"protein_id": "ENSP00000418974.1",
"transcript_support_level": 5,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473731.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5158C>T",
"hgvs_p": "p.Arg1720Cys",
"transcript": "ENST00000882909.1",
"protein_id": "ENSP00000552968.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5158,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882909.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5092C>T",
"hgvs_p": "p.Arg1698Cys",
"transcript": "ENST00000933257.1",
"protein_id": "ENSP00000603316.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1730,
"cds_start": 5092,
"cds_end": null,
"cds_length": 5193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933257.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5077C>T",
"hgvs_p": "p.Arg1693Cys",
"transcript": "ENST00000959949.1",
"protein_id": "ENSP00000630008.1",
"transcript_support_level": null,
"aa_start": 1693,
"aa_end": null,
"aa_length": 1725,
"cds_start": 5077,
"cds_end": null,
"cds_length": 5178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959949.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5047C>T",
"hgvs_p": "p.Arg1683Cys",
"transcript": "NM_001348734.2",
"protein_id": "NP_001335663.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1715,
"cds_start": 5047,
"cds_end": null,
"cds_length": 5148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348734.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5044C>T",
"hgvs_p": "p.Arg1682Cys",
"transcript": "NM_001348735.2",
"protein_id": "NP_001335664.1",
"transcript_support_level": null,
"aa_start": 1682,
"aa_end": null,
"aa_length": 1714,
"cds_start": 5044,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348735.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.5026C>T",
"hgvs_p": "p.Arg1676Cys",
"transcript": "ENST00000959947.1",
"protein_id": "ENSP00000630006.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1708,
"cds_start": 5026,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959947.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4918C>T",
"hgvs_p": "p.Arg1640Cys",
"transcript": "NM_001348736.2",
"protein_id": "NP_001335665.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4918,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348736.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4918C>T",
"hgvs_p": "p.Arg1640Cys",
"transcript": "ENST00000685097.1",
"protein_id": "ENSP00000510510.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4918,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685097.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIDINS220",
"gene_hgnc_id": 29508,
"hgvs_c": "c.4720C>T",
"hgvs_p": "p.Arg1574Cys",
"transcript": "ENST00000687912.1",
"protein_id": "ENSP00000508455.1",
"transcript_support_level": null,
"aa_start": 1574,
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}
],
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}