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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: 22-27982301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=27982301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 27982301,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145418.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"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.7366G>T",
"hgvs_p": "p.Ala2456Ser",
"transcript": "NM_001145418.2",
"protein_id": "NP_001138890.1",
"transcript_support_level": null,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2481,
"cds_start": 7366,
"cds_end": null,
"cds_length": 7446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397906.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145418.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7366G>T",
"hgvs_p": "p.Ala2456Ser",
"transcript": "ENST00000397906.7",
"protein_id": "ENSP00000381003.2",
"transcript_support_level": 1,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2481,
"cds_start": 7366,
"cds_end": null,
"cds_length": 7446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.146-3391C>A",
"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": null,
"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.206-12172C>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000454741.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7342G>T",
"hgvs_p": "p.Ala2448Ser",
"transcript": "NM_001393403.1",
"protein_id": "NP_001380332.1",
"transcript_support_level": null,
"aa_start": 2448,
"aa_end": null,
"aa_length": 2473,
"cds_start": 7342,
"cds_end": null,
"cds_length": 7422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393403.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7012G>T",
"hgvs_p": "p.Ala2338Ser",
"transcript": "NM_001393404.1",
"protein_id": "NP_001380333.1",
"transcript_support_level": null,
"aa_start": 2338,
"aa_end": null,
"aa_length": 2363,
"cds_start": 7012,
"cds_end": null,
"cds_length": 7092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393404.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.6988G>T",
"hgvs_p": "p.Ala2330Ser",
"transcript": "NM_001393405.1",
"protein_id": "NP_001380334.1",
"transcript_support_level": null,
"aa_start": 2330,
"aa_end": null,
"aa_length": 2355,
"cds_start": 6988,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393405.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.6985G>T",
"hgvs_p": "p.Ala2329Ser",
"transcript": "ENST00000612946.4",
"protein_id": "ENSP00000479834.1",
"transcript_support_level": 5,
"aa_start": 2329,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6985,
"cds_end": null,
"cds_length": 7065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612946.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7288G>T",
"hgvs_p": "p.Ala2430Ser",
"transcript": "XM_011530018.4",
"protein_id": "XP_011528320.1",
"transcript_support_level": null,
"aa_start": 2430,
"aa_end": null,
"aa_length": 2455,
"cds_start": 7288,
"cds_end": null,
"cds_length": 7368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530018.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7276G>T",
"hgvs_p": "p.Ala2426Ser",
"transcript": "XM_017028673.3",
"protein_id": "XP_016884162.1",
"transcript_support_level": null,
"aa_start": 2426,
"aa_end": null,
"aa_length": 2451,
"cds_start": 7276,
"cds_end": null,
"cds_length": 7356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028673.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7264G>T",
"hgvs_p": "p.Ala2422Ser",
"transcript": "XM_047441214.1",
"protein_id": "XP_047297170.1",
"transcript_support_level": null,
"aa_start": 2422,
"aa_end": null,
"aa_length": 2447,
"cds_start": 7264,
"cds_end": null,
"cds_length": 7344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441214.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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.7060G>T",
"hgvs_p": "p.Ala2354Ser",
"transcript": "XM_047441215.1",
"protein_id": "XP_047297171.1",
"transcript_support_level": null,
"aa_start": 2354,
"aa_end": null,
"aa_length": 2379,
"cds_start": 7060,
"cds_end": null,
"cds_length": 7140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.239-15110C>A",
"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": null,
"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.155-12172C>A",
"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": null,
"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.359-3391C>A",
"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": null,
"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.251-7581C>A",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.159-10823C>A",
"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": null,
"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.322-15110C>A",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000435348.6"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC28-AS1",
"gene_hgnc_id": 29336,
"hgvs_c": "n.136-15110C>A",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.204-15110C>A",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"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.240-3391C>A",
"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": null,
"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.155-3391C>A",
"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": null,
"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"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
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}