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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: 11-43798404-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=43798404&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 43798404,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016142.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "NM_016142.3",
"protein_id": "NP_057226.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 312,
"cds_start": 368,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278353.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016142.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "ENST00000278353.10",
"protein_id": "ENSP00000278353.4",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 312,
"cds_start": 368,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016142.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278353.10"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "ENST00000865203.1",
"protein_id": "ENSP00000535262.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 312,
"cds_start": 368,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865203.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Asp",
"transcript": "ENST00000865204.1",
"protein_id": "ENSP00000535263.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 311,
"cds_start": 365,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865204.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Ala120Asp",
"transcript": "ENST00000925444.1",
"protein_id": "ENSP00000595503.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 309,
"cds_start": 359,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925444.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "ENST00000966177.1",
"protein_id": "ENSP00000636236.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 297,
"cds_start": 368,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966177.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Asp",
"transcript": "ENST00000925445.1",
"protein_id": "ENSP00000595504.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 296,
"cds_start": 365,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925445.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "ENST00000925446.1",
"protein_id": "ENSP00000595505.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 290,
"cds_start": 368,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925446.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Ala81Asp",
"transcript": "ENST00000925447.1",
"protein_id": "ENSP00000595506.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 270,
"cds_start": 242,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925447.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.368C>A",
"hgvs_p": "p.Ala123Asp",
"transcript": "ENST00000865207.1",
"protein_id": "ENSP00000535266.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 251,
"cds_start": 368,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865207.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Ala122Asp",
"transcript": "ENST00000865208.1",
"protein_id": "ENSP00000535267.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 250,
"cds_start": 365,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865208.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.272C>A",
"hgvs_p": "p.Ala91Asp",
"transcript": "ENST00000638034.1",
"protein_id": "ENSP00000490701.1",
"transcript_support_level": 5,
"aa_start": 91,
"aa_end": null,
"aa_length": 177,
"cds_start": 272,
"cds_end": null,
"cds_length": 535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638034.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.245C>A",
"hgvs_p": "p.Ala82Asp",
"transcript": "ENST00000531185.5",
"protein_id": "ENSP00000436582.1",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 163,
"cds_start": 245,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531185.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.272C>A",
"hgvs_p": "p.Ala91Asp",
"transcript": "XM_017017881.2",
"protein_id": "XP_016873370.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 280,
"cds_start": 272,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017881.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"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": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Ala49Asp",
"transcript": "XM_011520156.2",
"protein_id": "XP_011518458.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 238,
"cds_start": 146,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520156.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Ala49Asp",
"transcript": "XM_024448571.2",
"protein_id": "XP_024304339.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 238,
"cds_start": 146,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448571.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Ala49Asp",
"transcript": "XM_024448572.2",
"protein_id": "XP_024304340.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 238,
"cds_start": 146,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448572.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Ala49Asp",
"transcript": "XM_024448573.2",
"protein_id": "XP_024304341.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 238,
"cds_start": 146,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448573.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.146C>A",
"hgvs_p": "p.Ala49Asp",
"transcript": "XM_047427074.1",
"protein_id": "XP_047283030.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 238,
"cds_start": 146,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.284-17033C>A",
"hgvs_p": null,
"transcript": "ENST00000637401.1",
"protein_id": "ENSP00000490421.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637401.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.161-17033C>A",
"hgvs_p": null,
"transcript": "ENST00000865206.1",
"protein_id": "ENSP00000535265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HSD17B12",
"gene_hgnc_id": 18646,
"hgvs_c": "c.361+7C>A",
"hgvs_p": null,
"transcript": "ENST00000865205.1",
"protein_id": "ENSP00000535264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865205.1"
},
{
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{
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{
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],
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}
],
"message": null
}