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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: 4-112647384-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112647384&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112647384,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000344442.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_016648.4",
"protein_id": "NP_057732.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": "ENST00000344442.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000344442.10",
"protein_id": "ENSP00000344950.5",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2107,
"mane_select": "NM_016648.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000509061.5",
"protein_id": "ENSP00000422626.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2332,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "n.*591A>T",
"hgvs_p": null,
"transcript": "ENST00000509622.5",
"protein_id": "ENSP00000422451.1",
"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": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "n.*591A>T",
"hgvs_p": null,
"transcript": "ENST00000509622.5",
"protein_id": "ENSP00000422451.1",
"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": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_001370974.1",
"protein_id": "NP_001357903.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 595,
"cds_start": 832,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_001370975.1",
"protein_id": "NP_001357904.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 595,
"cds_start": 832,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000694898.1",
"protein_id": "ENSP00000511576.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 595,
"cds_start": 832,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "NM_001370976.1",
"protein_id": "NP_001357905.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 594,
"cds_start": 829,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "NM_001370977.1",
"protein_id": "NP_001357906.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 594,
"cds_start": 829,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "ENST00000511529.2",
"protein_id": "ENSP00000426376.2",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 594,
"cds_start": 829,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000694896.1",
"protein_id": "ENSP00000511574.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 594,
"cds_start": 832,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 3169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_001267039.4",
"protein_id": "NP_001253968.2",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_001370978.1",
"protein_id": "NP_001357907.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "NM_015454.3",
"protein_id": "NP_056269.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000505034.6",
"protein_id": "ENSP00000421541.2",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000651579.1",
"protein_id": "ENSP00000499190.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000694894.1",
"protein_id": "ENSP00000511572.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 582,
"cds_start": 832,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "NM_001370979.1",
"protein_id": "NP_001357908.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 581,
"cds_start": 829,
"cds_end": null,
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"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "NM_001370980.1",
"protein_id": "NP_001357909.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 581,
"cds_start": 829,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "ENST00000694891.1",
"protein_id": "ENSP00000511571.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 581,
"cds_start": 829,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.832A>T",
"hgvs_p": "p.Lys278*",
"transcript": "ENST00000694895.1",
"protein_id": "ENSP00000511573.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 581,
"cds_start": 832,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.829A>T",
"hgvs_p": "p.Lys277*",
"transcript": "ENST00000694899.1",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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}
],
"message": null
}