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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: 5-126577145-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126577145&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126577145,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001182.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "NM_001182.5",
"protein_id": "NP_001173.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 539,
"cds_start": 584,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409134.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001182.5"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000409134.8",
"protein_id": "ENSP00000387123.3",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 539,
"cds_start": 584,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001182.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409134.8"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.629A>C",
"hgvs_p": "p.Asn210Thr",
"transcript": "ENST00000636879.1",
"protein_id": "ENSP00000490811.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 554,
"cds_start": 629,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636879.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000939100.1",
"protein_id": "ENSP00000609159.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 553,
"cds_start": 584,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939100.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865294.1",
"protein_id": "ENSP00000535353.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 549,
"cds_start": 584,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865294.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865298.1",
"protein_id": "ENSP00000535357.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 546,
"cds_start": 584,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865298.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.581A>C",
"hgvs_p": "p.Asn194Thr",
"transcript": "ENST00000635851.1",
"protein_id": "ENSP00000490819.1",
"transcript_support_level": 5,
"aa_start": 194,
"aa_end": null,
"aa_length": 544,
"cds_start": 581,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635851.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000939101.1",
"protein_id": "ENSP00000609160.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 538,
"cds_start": 584,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939101.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000637272.1",
"protein_id": "ENSP00000489686.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 536,
"cds_start": 584,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637272.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865293.1",
"protein_id": "ENSP00000535352.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 536,
"cds_start": 584,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865293.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865287.1",
"protein_id": "ENSP00000535346.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 526,
"cds_start": 584,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865287.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865296.1",
"protein_id": "ENSP00000535355.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 525,
"cds_start": 584,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865296.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000637782.1",
"protein_id": "ENSP00000490024.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 521,
"cds_start": 584,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637782.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865295.1",
"protein_id": "ENSP00000535354.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 513,
"cds_start": 584,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865295.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Asn167Thr",
"transcript": "NM_001201377.2",
"protein_id": "NP_001188306.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 511,
"cds_start": 500,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201377.2"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865291.1",
"protein_id": "ENSP00000535350.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 505,
"cds_start": 584,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865291.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865288.1",
"protein_id": "ENSP00000535347.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 500,
"cds_start": 584,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865288.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.464A>C",
"hgvs_p": "p.Asn155Thr",
"transcript": "ENST00000636743.1",
"protein_id": "ENSP00000489725.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 499,
"cds_start": 464,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636743.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000865292.1",
"protein_id": "ENSP00000535351.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 498,
"cds_start": 584,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865292.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000960036.1",
"protein_id": "ENSP00000630095.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 489,
"cds_start": 584,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960036.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "ENST00000637206.1",
"protein_id": "ENSP00000489895.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 479,
"cds_start": 584,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637206.1"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.584A>C",
"hgvs_p": "p.Asn195Thr",
"transcript": "NM_001202404.2",
"protein_id": "NP_001189333.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 475,
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}
],
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}