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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: 4-113356495-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113356495&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113356495,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001148.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7877C>T",
"hgvs_p": "p.Pro2626Leu",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 2626,
"aa_end": null,
"aa_length": 3957,
"cds_start": 7877,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 7953,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7877C>T",
"hgvs_p": "p.Pro2626Leu",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 2626,
"aa_end": null,
"aa_length": 3957,
"cds_start": 7877,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 7953,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.8018C>T",
"hgvs_p": "p.Pro2673Leu",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 2673,
"aa_end": null,
"aa_length": 4183,
"cds_start": 8018,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 8268,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 45,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4427-4328C>T",
"hgvs_p": null,
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1872,
"cds_start": -4,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 47,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4400-4328C>T",
"hgvs_p": null,
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": -4,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1430-4328C>T",
"hgvs_p": null,
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 965,
"cds_start": -4,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1109-4328C>T",
"hgvs_p": null,
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.8018C>T",
"hgvs_p": "p.Pro2673Leu",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 2673,
"aa_end": null,
"aa_length": 4183,
"cds_start": 8018,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 8268,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7994C>T",
"hgvs_p": "p.Pro2665Leu",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 2665,
"aa_end": null,
"aa_length": 4175,
"cds_start": 7994,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 8244,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7715C>T",
"hgvs_p": "p.Pro2572Leu",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 2572,
"aa_end": null,
"aa_length": 3995,
"cds_start": 7715,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 7914,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7958C>T",
"hgvs_p": "p.Pro2653Leu",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 2653,
"aa_end": null,
"aa_length": 3984,
"cds_start": 7958,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 8551,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7922C>T",
"hgvs_p": "p.Pro2641Leu",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 2641,
"aa_end": null,
"aa_length": 3972,
"cds_start": 7922,
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"cds_length": 11919,
"cdna_start": 8515,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7715C>T",
"hgvs_p": "p.Pro2572Leu",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 2572,
"aa_end": null,
"aa_length": 3964,
"cds_start": 7715,
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"cds_length": 11895,
"cdna_start": 7914,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7715C>T",
"hgvs_p": "p.Pro2572Leu",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7643C>T",
"hgvs_p": "p.Pro2548Leu",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 2548,
"aa_end": null,
"aa_length": 3940,
"cds_start": 7643,
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"cds_length": 11823,
"cdna_start": 7842,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7823C>T",
"hgvs_p": "p.Pro2608Leu",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
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"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7814C>T",
"hgvs_p": "p.Pro2605Leu",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 2605,
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"aa_length": 3936,
"cds_start": 7814,
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"cdna_start": 8024,
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"cdna_length": 14771,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7715C>T",
"hgvs_p": "p.Pro2572Leu",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 2572,
"aa_end": null,
"aa_length": 3934,
"cds_start": 7715,
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"cdna_start": 7914,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7778C>T",
"hgvs_p": "p.Pro2593Leu",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7778C>T",
"hgvs_p": "p.Pro2593Leu",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
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"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7751C>T",
"hgvs_p": "p.Pro2584Leu",
"transcript": "ENST00000671809.1",
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"cdna_start": 7950,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7715C>T",
"hgvs_p": "p.Pro2572Leu",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 2572,
"aa_end": null,
"aa_length": 3903,
"cds_start": 7715,
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"cdna_start": 7914,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.7691C>T",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "Long QT syndrome|not specified|Cardiovascular phenotype|ANK2-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}