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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: 16-20737098-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20737098&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20737098,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017736.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_017736.5",
"protein_id": "NP_060206.2",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": "ENST00000396083.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017736.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000396083.7",
"protein_id": "ENSP00000379392.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": "NM_017736.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396083.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000381337.6",
"protein_id": "ENSP00000370741.2",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381337.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "NM_001304550.2",
"protein_id": "NP_001291479.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304550.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Arg",
"transcript": "ENST00000888379.1",
"protein_id": "ENSP00000558438.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 353,
"cds_start": 844,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888379.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Gly251Arg",
"transcript": "ENST00000966612.1",
"protein_id": "ENSP00000636671.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 322,
"cds_start": 751,
"cds_end": null,
"cds_length": 969,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 4254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966612.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THUMPD1",
"gene_hgnc_id": 23807,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000888380.1",
"protein_id": "ENSP00000558439.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 294,
"cds_start": 667,
"cds_end": null,
"cds_length": 885,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888380.1"
},
{
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-242+7842C>T",
"hgvs_p": null,
"transcript": "ENST00000966458.1",
"protein_id": "ENSP00000636517.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966458.1"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-293-12167C>T",
"hgvs_p": null,
"transcript": "ENST00000887872.1",
"protein_id": "ENSP00000557931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887872.1"
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-12812C>T",
"hgvs_p": null,
"transcript": "ENST00000887873.1",
"protein_id": "ENSP00000557932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887873.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-12812C>T",
"hgvs_p": null,
"transcript": "ENST00000887874.1",
"protein_id": "ENSP00000557933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887874.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-12812C>T",
"hgvs_p": null,
"transcript": "ENST00000966442.1",
"protein_id": "ENSP00000636501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
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"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966442.1"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-190+7842C>T",
"hgvs_p": null,
"transcript": "ENST00000966443.1",
"protein_id": "ENSP00000636502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3296,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966443.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-397+7545C>T",
"hgvs_p": null,
"transcript": "ENST00000966445.1",
"protein_id": "ENSP00000636504.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000966445.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+7545C>T",
"hgvs_p": null,
"transcript": "ENST00000966446.1",
"protein_id": "ENSP00000636505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966446.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+7545C>T",
"hgvs_p": null,
"transcript": "ENST00000966447.1",
"protein_id": "ENSP00000636506.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000966447.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-396-12167C>T",
"hgvs_p": null,
"transcript": "ENST00000966448.1",
"protein_id": "ENSP00000636507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
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"cds_length": 1761,
"cdna_start": null,
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"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966448.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-95-18475C>T",
"hgvs_p": null,
"transcript": "ENST00000966449.1",
"protein_id": "ENSP00000636508.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-293-12167C>T",
"hgvs_p": null,
"transcript": "ENST00000966450.1",
"protein_id": "ENSP00000636509.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966450.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-189-12812C>T",
"hgvs_p": null,
"transcript": "ENST00000966451.1",
"protein_id": "ENSP00000636510.1",
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"aa_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000966451.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-190+7545C>T",
"hgvs_p": null,
"transcript": "ENST00000966452.1",
"protein_id": "ENSP00000636511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
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"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966452.1"
},
{
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-294+5359C>T",
"hgvs_p": null,
"transcript": "ENST00000966454.1",
"protein_id": "ENSP00000636513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
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"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966454.1"
},
{
"aa_ref": null,
"aa_alt": null,
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}
],
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}