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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: 2-20304929-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=20304929&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 20304929,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001352917.3",
"consequences": [
{
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "NM_015317.5",
"protein_id": "NP_056132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": "ENST00000361078.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015317.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000361078.7",
"protein_id": "ENSP00000354370.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": "NM_015317.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361078.7"
},
{
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000338086.9",
"protein_id": "ENSP00000338173.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338086.9"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.556+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000440577.5",
"protein_id": "ENSP00000409905.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": null,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440577.5"
},
{
"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": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.898+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899125.1",
"protein_id": "ENSP00000569184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1069,
"cds_start": null,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899125.1"
},
{
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "NM_001352917.3",
"protein_id": "NP_001339846.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352917.3"
},
{
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000704930.1",
"protein_id": "ENSP00000516061.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704930.1"
},
{
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899120.1",
"protein_id": "ENSP00000569179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899120.1"
},
{
"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": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899127.1",
"protein_id": "ENSP00000569186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899127.1"
},
{
"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": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899143.1",
"protein_id": "ENSP00000569202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899143.1"
},
{
"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": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000919028.1",
"protein_id": "ENSP00000589087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
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"cds_length": 3201,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000919028.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000955774.1",
"protein_id": "ENSP00000625833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1065,
"cds_start": null,
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"cds_length": 3198,
"cdna_start": null,
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"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955774.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "NM_001352918.2",
"protein_id": "NP_001339847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352918.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
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"transcript": "NM_001352919.3",
"protein_id": "NP_001339848.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001352919.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899119.1",
"protein_id": "ENSP00000569178.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1064,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899119.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 7,
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"gene_symbol": "PUM2",
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"hgvs_c": "c.883+3049A>T",
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"transcript": "ENST00000899126.1",
"protein_id": "ENSP00000569185.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000899126.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899132.1",
"protein_id": "ENSP00000569191.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899132.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899136.1",
"protein_id": "ENSP00000569195.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000899136.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
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"feature": "ENST00000899137.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
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"hgvs_c": "c.883+3049A>T",
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"transcript": "ENST00000899140.1",
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"feature": "ENST00000899140.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899144.1",
"protein_id": "ENSP00000569203.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1064,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899144.1"
},
{
"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": 22,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PUM2",
"gene_hgnc_id": 14958,
"hgvs_c": "c.883+3049A>T",
"hgvs_p": null,
"transcript": "ENST00000899147.1",
"protein_id": "ENSP00000569206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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}