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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: 6-89630727-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=89630727&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 89630727,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000339746.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "NM_001242809.2",
"protein_id": "NP_001229738.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "ENST00000339746.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000339746.9",
"protein_id": "ENSP00000345767.4",
"transcript_support_level": 1,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "NM_001242809.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "ENST00000447838.6",
"protein_id": "ENSP00000396771.2",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2198,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1802C>T",
"hgvs_p": "p.Pro601Leu",
"transcript": "ENST00000369408.9",
"protein_id": "ENSP00000358416.5",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 692,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 5258,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "n.1724C>T",
"hgvs_p": null,
"transcript": "ENST00000518253.5",
"protein_id": null,
"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": 2474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.186+7015G>A",
"hgvs_p": null,
"transcript": "ENST00000412237.6",
"protein_id": "ENSP00000430316.1",
"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": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.221-6125G>A",
"hgvs_p": null,
"transcript": "ENST00000520897.5",
"protein_id": null,
"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": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LYRM2",
"gene_hgnc_id": 25229,
"hgvs_c": "n.368-6125G>A",
"hgvs_p": null,
"transcript": "ENST00000523793.5",
"protein_id": null,
"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": 1317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1982C>T",
"hgvs_p": "p.Pro661Leu",
"transcript": "ENST00000710308.1",
"protein_id": "ENSP00000518190.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 752,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "NM_001242811.1",
"protein_id": "NP_001229740.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 5738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "ENST00000522441.5",
"protein_id": "ENSP00000430985.1",
"transcript_support_level": 2,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2548,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "NM_014942.4",
"protein_id": "NP_055757.3",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2233,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1802C>T",
"hgvs_p": "p.Pro601Leu",
"transcript": "NM_001242813.1",
"protein_id": "NP_001229742.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 692,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 5250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Pro572Leu",
"transcript": "NM_001242814.1",
"protein_id": "NP_001229743.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 663,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Pro572Leu",
"transcript": "ENST00000520793.5",
"protein_id": "ENSP00000429782.1",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 663,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1982C>T",
"hgvs_p": "p.Pro661Leu",
"transcript": "XM_005248679.4",
"protein_id": "XP_005248736.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 752,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1967C>T",
"hgvs_p": "p.Pro656Leu",
"transcript": "XM_047418397.1",
"protein_id": "XP_047274353.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 747,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1907C>T",
"hgvs_p": "p.Pro636Leu",
"transcript": "XM_005248681.3",
"protein_id": "XP_005248738.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 727,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1904C>T",
"hgvs_p": "p.Pro635Leu",
"transcript": "XM_005248682.4",
"protein_id": "XP_005248739.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 726,
"cds_start": 1904,
"cds_end": null,
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"cdna_start": 2038,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "XM_024446357.2",
"protein_id": "XP_024302125.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 5723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1892C>T",
"hgvs_p": "p.Pro631Leu",
"transcript": "XM_047418398.1",
"protein_id": "XP_047274354.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 722,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1883C>T",
"hgvs_p": "p.Pro628Leu",
"transcript": "XM_011535596.3",
"protein_id": "XP_011533898.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 719,
"cds_start": 1883,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 5124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD6",
"gene_hgnc_id": 17280,
"hgvs_c": "c.1883C>T",
"hgvs_p": "p.Pro628Leu",
"transcript": "XM_011535597.3",
"protein_id": "XP_011533899.1",
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"phenotype_combined": "ANKRD6-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}