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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: 5-151464599-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151464599&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151464599,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_078483.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_078483.4",
"protein_id": "NP_510968.2",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243389.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_078483.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000243389.8",
"protein_id": "ENSP00000243389.3",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_078483.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243389.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000521925.5",
"protein_id": "ENSP00000430305.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 388,
"cds_start": 320,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521925.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000429484.6",
"protein_id": "ENSP00000395640.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 243,
"cds_start": 320,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429484.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000520701.5",
"protein_id": "ENSP00000428140.1",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520701.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882825.1",
"protein_id": "ENSP00000552884.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882825.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882826.1",
"protein_id": "ENSP00000552885.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882826.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882827.1",
"protein_id": "ENSP00000552886.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882827.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882828.1",
"protein_id": "ENSP00000552887.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882828.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882829.1",
"protein_id": "ENSP00000552888.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882829.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882830.1",
"protein_id": "ENSP00000552889.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882830.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000882831.1",
"protein_id": "ENSP00000552890.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882831.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000924342.1",
"protein_id": "ENSP00000594401.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924342.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79His",
"transcript": "NM_001349740.2",
"protein_id": "NP_001336669.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 448,
"cds_start": 236,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349740.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_001308150.2",
"protein_id": "NP_001295079.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 386,
"cds_start": 320,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308150.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_001308151.2",
"protein_id": "NP_001295080.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 243,
"cds_start": 320,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308151.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "XM_047416920.1",
"protein_id": "XP_047272876.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 507,
"cds_start": 413,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416920.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "XM_011537580.3",
"protein_id": "XP_011535882.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 482,
"cds_start": 338,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537580.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_011537581.2",
"protein_id": "XP_011535883.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537581.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_011537584.3",
"protein_id": "XP_011535886.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537584.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_011537585.1",
"protein_id": "XP_011535887.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537585.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC36A1",
"gene_hgnc_id": 18761,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_011537586.3",
"protein_id": "XP_011535888.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 476,
"cds_start": 320,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}