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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: 12-32327816-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32327816&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32327816,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001714.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001714.4",
"protein_id": "NP_001705.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 975,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9419,
"mane_select": "ENST00000652176.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "ENST00000652176.1",
"protein_id": "ENSP00000498700.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 975,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9419,
"mane_select": "NM_001714.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "ENST00000548411.6",
"protein_id": "ENSP00000446793.1",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 835,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9115,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "n.1361A>G",
"hgvs_p": null,
"transcript": "ENST00000395758.3",
"protein_id": "ENSP00000379107.3",
"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": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413156.1",
"protein_id": "NP_001400085.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 993,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413157.1",
"protein_id": "NP_001400086.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 991,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413158.1",
"protein_id": "NP_001400087.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 988,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413159.1",
"protein_id": "NP_001400088.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 982,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001354186.2",
"protein_id": "NP_001341115.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 978,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413160.1",
"protein_id": "NP_001400089.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 945,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413161.1",
"protein_id": "NP_001400090.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 937,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413163.1",
"protein_id": "NP_001400092.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 929,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413164.1",
"protein_id": "NP_001400093.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 893,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413165.1",
"protein_id": "NP_001400094.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 891,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2676,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413166.1",
"protein_id": "NP_001400095.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 885,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413167.1",
"protein_id": "NP_001400096.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 883,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001354187.2",
"protein_id": "NP_001341116.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 877,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1394A>G",
"hgvs_p": "p.Lys465Arg",
"transcript": "NM_001413168.1",
"protein_id": "NP_001400097.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 846,
"cds_start": 1394,
"cds_end": null,
"cds_length": 2541,
"cdna_start": 1879,
"cdna_end": null,
"cdna_length": 9148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413169.1",
"protein_id": "NP_001400098.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 837,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001003398.3",
"protein_id": "NP_001003398.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 835,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 9115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001413155.1",
"protein_id": "NP_001400084.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 835,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
"hgvs_c": "c.1361A>G",
"hgvs_p": "p.Lys454Arg",
"transcript": "NM_001363603.2",
"protein_id": "NP_001350532.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 827,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2484,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICD1",
"gene_hgnc_id": 1049,
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}
],
"message": null
}