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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: 13-37009283-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37009283&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 37009283,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000389704.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "NM_181503.3",
"protein_id": "NP_852480.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 276,
"cds_start": 815,
"cds_end": null,
"cds_length": 831,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "ENST00000389704.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "ENST00000389704.4",
"protein_id": "ENSP00000374354.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 276,
"cds_start": 815,
"cds_end": null,
"cds_length": 831,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "NM_181503.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2305G>A",
"hgvs_p": null,
"transcript": "ENST00000490537.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Ser65Asn",
"transcript": "ENST00000481013.1",
"protein_id": "ENSP00000419203.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 69,
"cds_start": 194,
"cds_end": null,
"cds_length": 210,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000685624.1",
"protein_id": "ENSP00000510384.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000687482.1",
"protein_id": "ENSP00000510481.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1851,
"cdna_end": null,
"cdna_length": 2127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000687944.1",
"protein_id": "ENSP00000509727.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000688064.1",
"protein_id": "ENSP00000510279.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1769,
"cdna_end": null,
"cdna_length": 1862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000688436.1",
"protein_id": "ENSP00000508444.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1734,
"cdna_end": null,
"cdna_length": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000689948.1",
"protein_id": "ENSP00000509508.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000691611.1",
"protein_id": "ENSP00000508696.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000692143.1",
"protein_id": "ENSP00000510649.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000692588.1",
"protein_id": "ENSP00000509760.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000692636.1",
"protein_id": "ENSP00000509306.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000693100.1",
"protein_id": "ENSP00000509449.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 51,
"cds_start": 140,
"cds_end": null,
"cds_length": 156,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2305G>A",
"hgvs_p": null,
"transcript": "ENST00000464235.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2241G>A",
"hgvs_p": null,
"transcript": "ENST00000488779.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.3979G>A",
"hgvs_p": null,
"transcript": "ENST00000684866.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.3320G>A",
"hgvs_p": null,
"transcript": "ENST00000685563.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.4058G>A",
"hgvs_p": null,
"transcript": "ENST00000685643.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.2699G>A",
"hgvs_p": null,
"transcript": "ENST00000686701.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.1073G>A",
"hgvs_p": null,
"transcript": "ENST00000688771.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC8",
"gene_hgnc_id": 17035,
"hgvs_c": "n.*627G>A",
"hgvs_p": null,
"transcript": "ENST00000689744.1",
"protein_id": "ENSP00000510687.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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