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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: 6-87514994-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87514994&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87514994,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000369536.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1612delA",
"hgvs_p": "p.Thr538fs",
"transcript": "NM_020320.5",
"protein_id": "NP_064716.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 578,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "ENST00000369536.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1612delA",
"hgvs_p": "p.Thr538fs",
"transcript": "ENST00000369536.10",
"protein_id": "ENSP00000358549.5",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 578,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": "NM_020320.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1702delA",
"hgvs_p": "p.Thr568fs",
"transcript": "ENST00000687437.1",
"protein_id": "ENSP00000508968.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 608,
"cds_start": 1702,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1612delA",
"hgvs_p": "p.Thr538fs",
"transcript": "NM_001350505.2",
"protein_id": "NP_001337434.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 588,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1612delA",
"hgvs_p": "p.Thr538fs",
"transcript": "ENST00000691725.1",
"protein_id": "ENSP00000509453.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 588,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1201delA",
"hgvs_p": "p.Thr401fs",
"transcript": "ENST00000451155.2",
"protein_id": "ENSP00000389656.2",
"transcript_support_level": 3,
"aa_start": 401,
"aa_end": null,
"aa_length": 441,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350506.2",
"protein_id": "NP_001337435.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 413,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "ENST00000693431.1",
"protein_id": "ENSP00000509147.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 413,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1888,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001318785.2",
"protein_id": "NP_001305714.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350507.2",
"protein_id": "NP_001337436.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350508.2",
"protein_id": "NP_001337437.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350509.2",
"protein_id": "NP_001337438.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350510.2",
"protein_id": "NP_001337439.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "NM_001350511.2",
"protein_id": "NP_001337440.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
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"cdna_start": 1982,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "ENST00000685408.1",
"protein_id": "ENSP00000509026.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "ENST00000689174.1",
"protein_id": "ENSP00000510542.1",
"transcript_support_level": null,
"aa_start": 363,
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"cds_start": 1087,
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"cdna_start": 1865,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "ENST00000692684.1",
"protein_id": "ENSP00000509712.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
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"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1087delA",
"hgvs_p": "p.Thr363fs",
"transcript": "ENST00000693327.1",
"protein_id": "ENSP00000509195.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 403,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.1030delA",
"hgvs_p": "p.Thr344fs",
"transcript": "ENST00000687729.1",
"protein_id": "ENSP00000508582.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 384,
"cds_start": 1030,
"cds_end": null,
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"cdna_start": 1796,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.673delA",
"hgvs_p": "p.Thr225fs",
"transcript": "ENST00000686154.1",
"protein_id": "ENSP00000508436.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 275,
"cds_start": 673,
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"cdna_start": 1930,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.673delA",
"hgvs_p": "p.Thr225fs",
"transcript": "ENST00000689206.1",
"protein_id": "ENSP00000510495.1",
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"aa_start": 225,
"aa_end": null,
"aa_length": 275,
"cds_start": 673,
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"cdna_start": 1910,
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"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.673delA",
"hgvs_p": "p.Thr225fs",
"transcript": "ENST00000690622.1",
"protein_id": "ENSP00000508528.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 275,
"cds_start": 673,
"cds_end": null,
"cds_length": 828,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARS2",
"gene_hgnc_id": 21406,
"hgvs_c": "c.673delA",
"hgvs_p": "p.Thr225fs",
"transcript": "ENST00000685701.1",
"protein_id": "ENSP00000509573.1",
"transcript_support_level": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Pontocerebellar hypoplasia type 6|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}