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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: 6-24551501-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24551501&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 24551501,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350407.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "NM_014809.4",
"protein_id": "NP_055624.2",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378214.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014809.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "ENST00000378214.8",
"protein_id": "ENSP00000367459.3",
"transcript_support_level": 1,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014809.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378214.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.1206A>G",
"hgvs_p": "p.Lys402Lys",
"transcript": "ENST00000616673.4",
"protein_id": "ENSP00000483665.1",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 483,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616673.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2858-4158A>G",
"hgvs_p": null,
"transcript": "ENST00000537886.5",
"protein_id": "ENSP00000439700.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": null,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537886.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2882A>G",
"hgvs_p": "p.Lys961Arg",
"transcript": "NM_001350407.2",
"protein_id": "NP_001337336.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 978,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350407.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2882A>G",
"hgvs_p": "p.Lys961Arg",
"transcript": "NM_001350408.2",
"protein_id": "NP_001337337.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 978,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350408.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2882A>G",
"hgvs_p": "p.Lys961Arg",
"transcript": "XM_017011550.2",
"protein_id": "XP_016867039.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 978,
"cds_start": 2882,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011550.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2759A>G",
"hgvs_p": "p.Lys920Arg",
"transcript": "XM_047419604.1",
"protein_id": "XP_047275560.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 937,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419604.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "NM_001168375.2",
"protein_id": "NP_001161847.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168375.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "NM_001350403.2",
"protein_id": "NP_001337332.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350403.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "ENST00000901508.1",
"protein_id": "ENSP00000571567.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901508.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2973A>G",
"hgvs_p": "p.Lys991Lys",
"transcript": "ENST00000937457.1",
"protein_id": "ENSP00000607516.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937457.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2955A>G",
"hgvs_p": "p.Lys985Lys",
"transcript": "NM_001350404.2",
"protein_id": "NP_001337333.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350404.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2946A>G",
"hgvs_p": "p.Lys982Lys",
"transcript": "NM_001168374.2",
"protein_id": "NP_001161846.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168374.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2946A>G",
"hgvs_p": "p.Lys982Lys",
"transcript": "ENST00000535378.5",
"protein_id": "ENSP00000442403.1",
"transcript_support_level": 2,
"aa_start": 982,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535378.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2880A>G",
"hgvs_p": "p.Lys960Lys",
"transcript": "ENST00000901509.1",
"protein_id": "ENSP00000571568.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2880,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901509.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2880A>G",
"hgvs_p": "p.Lys960Lys",
"transcript": "ENST00000964874.1",
"protein_id": "ENSP00000634933.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2880,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964874.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2874A>G",
"hgvs_p": "p.Lys958Lys",
"transcript": "NM_001350405.2",
"protein_id": "NP_001337334.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2874,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350405.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2838A>G",
"hgvs_p": "p.Lys946Lys",
"transcript": "NM_001168376.2",
"protein_id": "NP_001161848.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168376.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2838A>G",
"hgvs_p": "p.Lys946Lys",
"transcript": "NM_001350406.2",
"protein_id": "NP_001337335.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350406.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2838A>G",
"hgvs_p": "p.Lys946Lys",
"transcript": "ENST00000430948.6",
"protein_id": "ENSP00000401086.2",
"transcript_support_level": 2,
"aa_start": 946,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2838,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430948.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA0319",
"gene_hgnc_id": 21580,
"hgvs_c": "c.2517A>G",
"hgvs_p": "p.Lys839Lys",
"transcript": "NM_001350409.2",
"protein_id": "NP_001337338.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
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}
],
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}