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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: 16-86553056-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=86553056&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 86553056,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000360900.11",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.124-910T>G",
"hgvs_p": null,
"transcript": "NM_001159377.2",
"protein_id": "NP_001152849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": "ENST00000360900.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.124-910T>G",
"hgvs_p": null,
"transcript": "ENST00000360900.11",
"protein_id": "ENSP00000354152.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": "NM_001159377.2",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.124-764T>G",
"hgvs_p": null,
"transcript": "ENST00000381214.9",
"protein_id": "ENSP00000370612.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1210,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.121-764T>G",
"hgvs_p": null,
"transcript": "ENST00000543303.6",
"protein_id": "ENSP00000444003.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1207,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.121-910T>G",
"hgvs_p": null,
"transcript": "ENST00000634347.1",
"protein_id": "ENSP00000489295.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1207,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.106-910T>G",
"hgvs_p": null,
"transcript": "ENST00000562940.6",
"protein_id": "ENSP00000456652.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": -4,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.124-910T>G",
"hgvs_p": null,
"transcript": "ENST00000566050.5",
"protein_id": "ENSP00000456910.1",
"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": 1270,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.124-764T>G",
"hgvs_p": null,
"transcript": "NM_001159378.2",
"protein_id": "NP_001152850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3028,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.121-764T>G",
"hgvs_p": null,
"transcript": "NM_001159379.2",
"protein_id": "NP_001152851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.121-910T>G",
"hgvs_p": null,
"transcript": "NM_022764.3",
"protein_id": "NP_073601.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.64-910T>G",
"hgvs_p": null,
"transcript": "NM_001159380.2",
"protein_id": "NP_001152852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3024,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.103-910T>G",
"hgvs_p": null,
"transcript": "ENST00000566469.5",
"protein_id": "ENSP00000455940.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.-443-764T>G",
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"transcript": "ENST00000546093.5",
"protein_id": "ENSP00000438761.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.120+1589T>G",
"hgvs_p": null,
"transcript": "ENST00000569000.5",
"protein_id": "ENSP00000454807.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "MTHFSD",
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"hgvs_c": "c.118-764T>G",
"hgvs_p": null,
"transcript": "ENST00000568037.5",
"protein_id": "ENSP00000480673.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "MTHFSD",
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"hgvs_c": "c.64-910T>G",
"hgvs_p": null,
"transcript": "ENST00000561989.5",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "MTHFSD",
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"hgvs_c": "c.64-764T>G",
"hgvs_p": null,
"transcript": "ENST00000564364.5",
"protein_id": "ENSP00000458104.1",
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.64-910T>G",
"hgvs_p": null,
"transcript": "ENST00000565482.1",
"protein_id": "ENSP00000457794.1",
"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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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "c.-443-910T>G",
"hgvs_p": null,
"transcript": "ENST00000562994.5",
"protein_id": "ENSP00000456628.1",
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},
{
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],
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"gene_symbol": "MTHFSD",
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"hgvs_c": "c.-426-910T>G",
"hgvs_p": null,
"transcript": "ENST00000561522.1",
"protein_id": "ENSP00000454429.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MTHFSD",
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"hgvs_c": "n.462+204T>G",
"hgvs_p": null,
"transcript": "ENST00000561848.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.120+1589T>G",
"hgvs_p": null,
"transcript": "ENST00000567539.5",
"protein_id": "ENSP00000454593.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": 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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFSD",
"gene_hgnc_id": 25778,
"hgvs_c": "n.123+1589T>G",
"hgvs_p": null,
"transcript": "ENST00000568798.5",
"protein_id": "ENSP00000455262.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
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