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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: 16-66513721-TCTTA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=66513721&ref=TCTTA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 66513721,
"ref": "TCTTA",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000544898.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.699+6_699+9delTAAG",
"hgvs_p": null,
"transcript": "NM_004614.5",
"protein_id": "NP_004605.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": "ENST00000544898.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.699+6_699+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000544898.6",
"protein_id": "ENSP00000440898.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": -4,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": "NM_004614.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.606+6_606+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000451102.7",
"protein_id": "ENSP00000414334.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.562-1659_562-1656delTAAG",
"hgvs_p": null,
"transcript": "ENST00000527284.6",
"protein_id": "ENSP00000435312.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": -4,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.531+6_531+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000299697.12",
"protein_id": "ENSP00000299697.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000527800.6",
"protein_id": "ENSP00000433770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.437+6_437+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000569718.6",
"protein_id": "ENSP00000464313.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260851",
"gene_hgnc_id": null,
"hgvs_c": "n.147+6_147+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000561728.1",
"protein_id": "ENSP00000462196.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "n.*557+6_*557+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000567357.6",
"protein_id": "ENSP00000457959.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.750+6_750+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000564917.5",
"protein_id": "ENSP00000455187.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.645+6_645+9delTAAG",
"hgvs_p": null,
"transcript": "NM_001172645.2",
"protein_id": "NP_001166116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
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"cdna_length": 4770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.645+6_645+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000417693.8",
"protein_id": "ENSP00000407469.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.624+6_624+9delTAAG",
"hgvs_p": null,
"transcript": "NM_001172644.2",
"protein_id": "NP_001166115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4749,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.624+6_624+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000545043.6",
"protein_id": "ENSP00000438143.2",
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"cds_start": -4,
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.606+6_606+9delTAAG",
"hgvs_p": null,
"transcript": "NM_001172643.1",
"protein_id": "NP_001166114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.552+6_552+9delTAAG",
"hgvs_p": null,
"transcript": "NM_001271934.2",
"protein_id": "NP_001258863.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "NM_001272050.2",
"protein_id": "NP_001258979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000525974.5",
"protein_id": "ENSP00000434594.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
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"cdna_start": null,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000563369.6",
"protein_id": "ENSP00000463560.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000677420.1",
"protein_id": "ENSP00000504648.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000677555.1",
"protein_id": "ENSP00000503331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TK2",
"gene_hgnc_id": 11831,
"hgvs_c": "c.408+6_408+9delTAAG",
"hgvs_p": null,
"transcript": "ENST00000677715.1",
"protein_id": "ENSP00000502950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "Mitochondrial DNA depletion syndrome, myopathic form|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}