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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: 5-33453263-CTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=33453263&ref=CTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 33453263,
"ref": "CTTT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001258438.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-6_330-4delTTT",
"hgvs_p": null,
"transcript": "NM_152295.5",
"protein_id": "NP_689508.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152295.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000265112.8",
"protein_id": "ENSP00000265112.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152295.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265112.8"
},
{
"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": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*283-25_*283-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000509731.5",
"protein_id": "ENSP00000427304.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509731.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.429-6_429-4delTTT",
"hgvs_p": null,
"transcript": "NM_001258438.2",
"protein_id": "NP_001245367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258438.2"
},
{
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.429-25_429-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000455217.6",
"protein_id": "ENSP00000387710.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455217.6"
},
{
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000915155.1",
"protein_id": "ENSP00000585214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 726,
"cds_start": null,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915155.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-6_330-4delTTT",
"hgvs_p": null,
"transcript": "NM_001258437.1",
"protein_id": "NP_001245366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258437.1"
},
{
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000502553.5",
"protein_id": "ENSP00000424387.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": null,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502553.5"
},
{
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000949500.1",
"protein_id": "ENSP00000619559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": null,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949500.1"
},
{
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000915152.1",
"protein_id": "ENSP00000585211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 698,
"cds_start": null,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915152.1"
},
{
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.237-25_237-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000915154.1",
"protein_id": "ENSP00000585213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915154.1"
},
{
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"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000915156.1",
"protein_id": "ENSP00000585215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 688,
"cds_start": null,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915156.1"
},
{
"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": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.139-1681_139-1679delTTT",
"hgvs_p": null,
"transcript": "ENST00000949499.1",
"protein_id": "ENSP00000619558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": null,
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"cds_length": 1857,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949499.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.329+4533_329+4535delTTT",
"hgvs_p": null,
"transcript": "ENST00000915153.1",
"protein_id": "ENSP00000585212.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915153.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.330-25_330-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000514259.5",
"protein_id": "ENSP00000422130.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514259.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.139-25_139-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000627006.2",
"protein_id": "ENSP00000486068.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
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"cds_length": 171,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627006.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.330-30_330-28delTTT",
"hgvs_p": null,
"transcript": "ENST00000505012.5",
"protein_id": "ENSP00000422291.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000505012.5"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.330-1718_330-1716delTTT",
"hgvs_p": null,
"transcript": "ENST00000507716.5",
"protein_id": "ENSP00000420893.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000507716.5"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.139-25_139-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000508361.5",
"protein_id": "ENSP00000427627.1",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000508361.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*287-25_*287-23delTTT",
"hgvs_p": null,
"transcript": "ENST00000513066.3",
"protein_id": "ENSP00000425524.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513066.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.573-6_573-4delTTT",
"hgvs_p": null,
"transcript": "NR_047676.2",
"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": "NR_047676.2"
},
{
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.452-1699_452-1697delTTT",
"hgvs_p": null,
"transcript": "NR_047677.2",
"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": "NR_047677.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.261-6_261-4delTTT",
"hgvs_p": null,
"transcript": "NR_047678.2",
"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": "NR_047678.2"
}
],
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"dbsnp": "rs35931457",
"frequency_reference_population": 0.015823172,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20645,
"gnomad_exomes_af": 0.0172043,
"gnomad_genomes_af": 0.0000760398,
"gnomad_exomes_ac": 20637,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.694,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001258438.2",
"gene_symbol": "TARS1",
"hgnc_id": 11572,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.429-6_429-4delTTT",
"hgvs_p": null
}
],
"clinvar_disease": "TARS1-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TARS1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}