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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: 22-27982544-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=27982544&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 27982544,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001145418.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7123A>G",
"hgvs_p": "p.Met2375Val",
"transcript": "NM_001145418.2",
"protein_id": "NP_001138890.1",
"transcript_support_level": null,
"aa_start": 2375,
"aa_end": null,
"aa_length": 2481,
"cds_start": 7123,
"cds_end": null,
"cds_length": 7446,
"cdna_start": 7240,
"cdna_end": null,
"cdna_length": 11770,
"mane_select": "ENST00000397906.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145418.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7123A>G",
"hgvs_p": "p.Met2375Val",
"transcript": "ENST00000397906.7",
"protein_id": "ENSP00000381003.2",
"transcript_support_level": 1,
"aa_start": 2375,
"aa_end": null,
"aa_length": 2481,
"cds_start": 7123,
"cds_end": null,
"cds_length": 7446,
"cdna_start": 7240,
"cdna_end": null,
"cdna_length": 11770,
"mane_select": "NM_001145418.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397906.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.146-3148T>C",
"hgvs_p": null,
"transcript": "ENST00000419253.1",
"protein_id": null,
"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": 846,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000419253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.206-11929T>C",
"hgvs_p": null,
"transcript": "ENST00000454741.5",
"protein_id": null,
"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": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000454741.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7099A>G",
"hgvs_p": "p.Met2367Val",
"transcript": "NM_001393403.1",
"protein_id": "NP_001380332.1",
"transcript_support_level": null,
"aa_start": 2367,
"aa_end": null,
"aa_length": 2473,
"cds_start": 7099,
"cds_end": null,
"cds_length": 7422,
"cdna_start": 7216,
"cdna_end": null,
"cdna_length": 11746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393403.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.6769A>G",
"hgvs_p": "p.Met2257Val",
"transcript": "NM_001393404.1",
"protein_id": "NP_001380333.1",
"transcript_support_level": null,
"aa_start": 2257,
"aa_end": null,
"aa_length": 2363,
"cds_start": 6769,
"cds_end": null,
"cds_length": 7092,
"cdna_start": 7516,
"cdna_end": null,
"cdna_length": 12046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393404.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.6745A>G",
"hgvs_p": "p.Met2249Val",
"transcript": "NM_001393405.1",
"protein_id": "NP_001380334.1",
"transcript_support_level": null,
"aa_start": 2249,
"aa_end": null,
"aa_length": 2355,
"cds_start": 6745,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 7492,
"cdna_end": null,
"cdna_length": 12022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393405.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.6742A>G",
"hgvs_p": "p.Met2248Val",
"transcript": "ENST00000612946.4",
"protein_id": "ENSP00000479834.1",
"transcript_support_level": 5,
"aa_start": 2248,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6742,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6744,
"cdna_end": null,
"cdna_length": 11274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612946.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7045A>G",
"hgvs_p": "p.Met2349Val",
"transcript": "XM_011530018.4",
"protein_id": "XP_011528320.1",
"transcript_support_level": null,
"aa_start": 2349,
"aa_end": null,
"aa_length": 2455,
"cds_start": 7045,
"cds_end": null,
"cds_length": 7368,
"cdna_start": 7443,
"cdna_end": null,
"cdna_length": 11973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530018.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7033A>G",
"hgvs_p": "p.Met2345Val",
"transcript": "XM_017028673.3",
"protein_id": "XP_016884162.1",
"transcript_support_level": null,
"aa_start": 2345,
"aa_end": null,
"aa_length": 2451,
"cds_start": 7033,
"cds_end": null,
"cds_length": 7356,
"cdna_start": 7240,
"cdna_end": null,
"cdna_length": 11770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028673.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.7021A>G",
"hgvs_p": "p.Met2341Val",
"transcript": "XM_047441214.1",
"protein_id": "XP_047297170.1",
"transcript_support_level": null,
"aa_start": 2341,
"aa_end": null,
"aa_length": 2447,
"cds_start": 7021,
"cds_end": null,
"cds_length": 7344,
"cdna_start": 7419,
"cdna_end": null,
"cdna_length": 11949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441214.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC28",
"gene_hgnc_id": 29179,
"hgvs_c": "c.6817A>G",
"hgvs_p": "p.Met2273Val",
"transcript": "XM_047441215.1",
"protein_id": "XP_047297171.1",
"transcript_support_level": null,
"aa_start": 2273,
"aa_end": null,
"aa_length": 2379,
"cds_start": 6817,
"cds_end": null,
"cds_length": 7140,
"cdna_start": 7325,
"cdna_end": null,
"cdna_length": 11855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.239-14867T>C",
"hgvs_p": null,
"transcript": "ENST00000417497.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 3733,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000417497.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.155-11929T>C",
"hgvs_p": null,
"transcript": "ENST00000424161.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000424161.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.359-3148T>C",
"hgvs_p": null,
"transcript": "ENST00000425112.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000425112.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.251-7338T>C",
"hgvs_p": null,
"transcript": "ENST00000430853.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000430853.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.159-10580T>C",
"hgvs_p": null,
"transcript": "ENST00000434221.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 4804,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000434221.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.322-14867T>C",
"hgvs_p": null,
"transcript": "ENST00000435348.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435348.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.136-14867T>C",
"hgvs_p": null,
"transcript": "ENST00000452612.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000452612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.204-14867T>C",
"hgvs_p": null,
"transcript": "ENST00000453632.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4790,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000453632.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.240-3148T>C",
"hgvs_p": null,
"transcript": "ENST00000454996.9",
"protein_id": null,
"transcript_support_level": 2,
"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": 940,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000454996.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.155-3148T>C",
"hgvs_p": null,
"transcript": "ENST00000654619.1",
"protein_id": null,
"transcript_support_level": null,
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}