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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: 2-27445305-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27445305&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27445305,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015662.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.5059C>G",
"hgvs_p": "p.Leu1687Val",
"transcript": "NM_015662.3",
"protein_id": "NP_056477.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1749,
"cds_start": 5059,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000260570.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015662.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.5059C>G",
"hgvs_p": "p.Leu1687Val",
"transcript": "ENST00000260570.8",
"protein_id": "ENSP00000260570.3",
"transcript_support_level": 1,
"aa_start": 1687,
"aa_end": null,
"aa_length": 1749,
"cds_start": 5059,
"cds_end": null,
"cds_length": 5250,
"cdna_start": 5149,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015662.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260570.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*504C>G",
"hgvs_p": null,
"transcript": "ENST00000509128.5",
"protein_id": "ENSP00000427255.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "n.*504C>G",
"hgvs_p": null,
"transcript": "ENST00000509128.5",
"protein_id": "ENSP00000427255.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509128.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.5170C>G",
"hgvs_p": "p.Leu1724Val",
"transcript": "ENST00000945698.1",
"protein_id": "ENSP00000615757.1",
"transcript_support_level": null,
"aa_start": 1724,
"aa_end": null,
"aa_length": 1786,
"cds_start": 5170,
"cds_end": null,
"cds_length": 5361,
"cdna_start": 5260,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945698.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4993C>G",
"hgvs_p": "p.Leu1665Val",
"transcript": "NM_001410739.1",
"protein_id": "NP_001397668.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4993,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 5083,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410739.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4993C>G",
"hgvs_p": "p.Leu1665Val",
"transcript": "ENST00000675690.1",
"protein_id": "ENSP00000502283.1",
"transcript_support_level": null,
"aa_start": 1665,
"aa_end": null,
"aa_length": 1727,
"cds_start": 4993,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 5094,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675690.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4960C>G",
"hgvs_p": "p.Leu1654Val",
"transcript": "ENST00000923256.1",
"protein_id": "ENSP00000593315.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4960,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 5028,
"cdna_end": null,
"cdna_length": 5274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923256.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4951C>G",
"hgvs_p": "p.Leu1651Val",
"transcript": "ENST00000872012.1",
"protein_id": "ENSP00000542071.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1713,
"cds_start": 4951,
"cds_end": null,
"cds_length": 5142,
"cdna_start": 5134,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872012.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4930C>G",
"hgvs_p": "p.Leu1644Val",
"transcript": "ENST00000945697.1",
"protein_id": "ENSP00000615756.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1706,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 5082,
"cdna_end": null,
"cdna_length": 5322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945697.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4996C>G",
"hgvs_p": "p.Leu1666Val",
"transcript": "XM_006711986.4",
"protein_id": "XP_006712049.1",
"transcript_support_level": null,
"aa_start": 1666,
"aa_end": null,
"aa_length": 1728,
"cds_start": 4996,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 5233,
"cdna_end": null,
"cdna_length": 5479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711986.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4960C>G",
"hgvs_p": "p.Leu1654Val",
"transcript": "XM_006711987.2",
"protein_id": "XP_006712050.1",
"transcript_support_level": null,
"aa_start": 1654,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4960,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 5050,
"cdna_end": null,
"cdna_length": 5296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711987.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4894C>G",
"hgvs_p": "p.Leu1632Val",
"transcript": "XM_047443900.1",
"protein_id": "XP_047299856.1",
"transcript_support_level": null,
"aa_start": 1632,
"aa_end": null,
"aa_length": 1694,
"cds_start": 4894,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 4984,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443900.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4378C>G",
"hgvs_p": "p.Leu1460Val",
"transcript": "XM_047443901.1",
"protein_id": "XP_047299857.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4378,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 4862,
"cdna_end": null,
"cdna_length": 5108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443901.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.4378C>G",
"hgvs_p": "p.Leu1460Val",
"transcript": "XM_047443902.1",
"protein_id": "XP_047299858.1",
"transcript_support_level": null,
"aa_start": 1460,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4378,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 4771,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443902.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.3499C>G",
"hgvs_p": "p.Leu1167Val",
"transcript": "XM_011532759.3",
"protein_id": "XP_011531061.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3499,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532759.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.3196C>G",
"hgvs_p": "p.Leu1066Val",
"transcript": "XM_047443904.1",
"protein_id": "XP_047299860.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443904.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT172",
"gene_hgnc_id": 30391,
"hgvs_c": "c.3124C>G",
"hgvs_p": "p.Leu1042Val",
"transcript": "XM_011532760.3",
"protein_id": "XP_011531062.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1104,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3315,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532760.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*42G>C",
"hgvs_p": null,
"transcript": "ENST00000872248.1",
"protein_id": "ENSP00000542307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872248.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-996G>C",
"hgvs_p": null,
"transcript": "NM_001168364.2",
"protein_id": "NP_001161836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168364.2"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-996G>C",
"hgvs_p": null,
"transcript": "ENST00000543753.5",
"protein_id": "ENSP00000442400.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543753.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KRTCAP3",
"gene_hgnc_id": 28943,
"hgvs_c": "c.*6-996G>C",
"hgvs_p": null,
"transcript": "ENST00000452499.1",
"protein_id": "ENSP00000388115.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
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}