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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: 18-31069010-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31069010&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31069010,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024422.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "NM_024422.6",
"protein_id": "NP_077740.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 901,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "ENST00000280904.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024422.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "ENST00000280904.11",
"protein_id": "ENSP00000280904.6",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 901,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 12331,
"mane_select": "NM_024422.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280904.11"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "ENST00000251081.8",
"protein_id": "ENSP00000251081.6",
"transcript_support_level": 1,
"aa_start": 798,
"aa_end": null,
"aa_length": 847,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 12377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251081.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2413C>G",
"hgvs_p": "p.Arg805Gly",
"transcript": "ENST00000713707.1",
"protein_id": "ENSP00000519010.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 908,
"cds_start": 2413,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713707.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2389C>G",
"hgvs_p": "p.Arg797Gly",
"transcript": "ENST00000713705.1",
"protein_id": "ENSP00000519008.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 900,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713705.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2383C>G",
"hgvs_p": "p.Arg795Gly",
"transcript": "ENST00000713702.1",
"protein_id": "ENSP00000519005.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 898,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713702.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2257C>G",
"hgvs_p": "p.Arg753Gly",
"transcript": "ENST00000713682.1",
"protein_id": "ENSP00000518985.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 856,
"cds_start": 2257,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713682.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "ENST00000713704.1",
"protein_id": "ENSP00000519007.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 853,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713704.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "NM_004949.5",
"protein_id": "NP_004940.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 847,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2842,
"cdna_end": null,
"cdna_length": 12377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004949.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2383C>G",
"hgvs_p": "p.Arg795Gly",
"transcript": "ENST00000713706.1",
"protein_id": "ENSP00000519009.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 844,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713706.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2392C>G",
"hgvs_p": "p.Arg798Gly",
"transcript": "ENST00000713722.1",
"protein_id": "ENSP00000519025.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 839,
"cds_start": 2392,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2821,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713722.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2383C>G",
"hgvs_p": "p.Arg795Gly",
"transcript": "ENST00000713703.1",
"protein_id": "ENSP00000519006.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 836,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 2836,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713703.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2167C>G",
"hgvs_p": "p.Arg723Gly",
"transcript": "ENST00000861946.1",
"protein_id": "ENSP00000532005.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 826,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2621,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861946.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2155C>G",
"hgvs_p": "p.Arg719Gly",
"transcript": "ENST00000861947.1",
"protein_id": "ENSP00000532006.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 822,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 2495,
"cdna_end": null,
"cdna_length": 3402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861947.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.2167C>G",
"hgvs_p": "p.Arg723Gly",
"transcript": "ENST00000713720.1",
"protein_id": "ENSP00000519023.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 772,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713720.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "NM_001406506.1",
"protein_id": "NP_001393435.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2363,
"cdna_end": null,
"cdna_length": 11852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406506.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000648081.1",
"protein_id": "ENSP00000497441.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 4778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648081.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000682357.1",
"protein_id": "ENSP00000507826.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 4722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682357.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000713681.1",
"protein_id": "ENSP00000518984.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713681.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000713683.1",
"protein_id": "ENSP00000518986.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713683.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000713685.1",
"protein_id": "ENSP00000518988.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2462,
"cdna_end": null,
"cdna_length": 12246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713685.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSC2",
"gene_hgnc_id": 3036,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Arg655Gly",
"transcript": "ENST00000713721.1",
"protein_id": "ENSP00000519024.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 758,
"cds_start": 1963,
"cds_end": null,
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}
],
"message": null
}