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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: 14-21213049-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21213049&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21213049,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031314.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "NM_004500.4",
"protein_id": "NP_004491.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 293,
"cds_start": 434,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000553300.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004500.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000553300.6",
"protein_id": "ENSP00000450544.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 293,
"cds_start": 434,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004500.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553300.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000554455.5",
"protein_id": "ENSP00000451291.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554455.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000557201.5",
"protein_id": "ENSP00000452276.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557201.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000430246.6",
"protein_id": "ENSP00000442816.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 293,
"cds_start": 434,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430246.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145His",
"transcript": "ENST00000556897.5",
"protein_id": "ENSP00000451176.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 293,
"cds_start": 434,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556897.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "ENST00000556628.5",
"protein_id": "ENSP00000451652.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 226,
"cds_start": 233,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556628.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.414+20G>A",
"hgvs_p": null,
"transcript": "ENST00000555883.5",
"protein_id": "ENSP00000450629.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"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": "ENST00000555883.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"transcript": "ENST00000948341.1",
"protein_id": "ENSP00000618400.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 353,
"cds_start": 614,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948341.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000913880.1",
"protein_id": "ENSP00000583939.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 340,
"cds_start": 575,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913880.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "NM_001077442.2",
"protein_id": "NP_001070910.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077442.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "NM_031314.3",
"protein_id": "NP_112604.2",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031314.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000420743.6",
"protein_id": "ENSP00000404848.2",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420743.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861385.1",
"protein_id": "ENSP00000531444.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861385.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861388.1",
"protein_id": "ENSP00000531447.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861388.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861389.1",
"protein_id": "ENSP00000531448.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861389.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861392.1",
"protein_id": "ENSP00000531451.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861392.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861394.1",
"protein_id": "ENSP00000531453.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861394.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861397.1",
"protein_id": "ENSP00000531456.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861397.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861408.1",
"protein_id": "ENSP00000531467.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861409.1",
"protein_id": "ENSP00000531468.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861409.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPC",
"gene_hgnc_id": 5035,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158His",
"transcript": "ENST00000861416.1",
"protein_id": "ENSP00000531475.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 306,
"cds_start": 473,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861416.1"
},
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}
],
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}