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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: 4-113049806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113049806&ref=C&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113049806,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001148.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 3957,
"cds_start": 78,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 3957,
"cds_start": 78,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 154,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 1872,
"cds_start": 78,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 131,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.22-124610C>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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 3924,
"cds_start": 78,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 11775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 3924,
"cds_start": 78,
"cds_end": null,
"cds_length": 11775,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 14732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000672251.1",
"protein_id": "ENSP00000500580.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 3891,
"cds_start": 78,
"cds_end": null,
"cds_length": 11676,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 14606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354225.2",
"protein_id": "NP_001341154.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1937,
"cds_start": 78,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354228.2",
"protein_id": "NP_001341157.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1931,
"cds_start": 78,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 8376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000671727.1",
"protein_id": "ENSP00000500102.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1931,
"cds_start": 78,
"cds_end": null,
"cds_length": 5796,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354232.2",
"protein_id": "NP_001341161.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1915,
"cds_start": 78,
"cds_end": null,
"cds_length": 5748,
"cdna_start": 393,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 47,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000671762.1",
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"aa_start": 26,
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"aa_length": 1915,
"cds_start": 78,
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"cdna_start": 285,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
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"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354235.2",
"protein_id": "NP_001341164.1",
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"cdna_start": 393,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354236.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354241.2",
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"cds_start": 78,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 46,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000672779.1",
"protein_id": "ENSP00000499869.1",
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},
{
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],
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"gene_symbol": "ANK2",
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"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354245.2",
"protein_id": "NP_001341174.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000672045.1",
"protein_id": "ENSP00000499959.1",
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"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
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"gene_symbol": "ANK2",
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"hgvs_c": "c.78C>T",
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"transcript": "NM_020977.5",
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},
{
"aa_ref": "P",
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "ANK2",
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"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354246.2",
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},
{
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"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "ANK2",
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"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
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"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
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"exon_count": 44,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "ENST00000672366.1",
"protein_id": "ENSP00000500937.1",
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"cds_start": 78,
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"cdna_length": 8477,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.78C>T",
"hgvs_p": "p.Pro26Pro",
"transcript": "NM_001354265.2",
"protein_id": "NP_001341194.1",
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}