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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: 1-113900348-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113900348&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113900348,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000369569.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 739,
"cds_start": 670,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Arg149Gly",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 664,
"cds_start": 445,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Arg149Gly",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 664,
"cds_start": 445,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Arg131Gly",
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 646,
"cds_start": 391,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.373C>G",
"hgvs_p": "p.Arg125Gly",
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 640,
"cds_start": 373,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 705,
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"cdna_length": 3126,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "NM_001438375.1",
"protein_id": "NP_001425304.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 635,
"cds_start": 670,
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"cds_length": 1908,
"cdna_start": 833,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.166C>G",
"hgvs_p": "p.Arg56Gly",
"transcript": "NM_001308312.2",
"protein_id": "NP_001295241.1",
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},
{
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"strand": false,
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],
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.166C>G",
"hgvs_p": "p.Arg56Gly",
"transcript": "NM_001438376.1",
"protein_id": "NP_001425305.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 571,
"cds_start": 166,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.166C>G",
"hgvs_p": "p.Arg56Gly",
"transcript": "ENST00000369567.6",
"protein_id": "ENSP00000358580.1",
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},
{
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"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.166C>G",
"hgvs_p": "p.Arg56Gly",
"transcript": "ENST00000432415.6",
"protein_id": "ENSP00000393622.2",
"transcript_support_level": 3,
"aa_start": 56,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.445C>G",
"hgvs_p": "p.Arg149Gly",
"transcript": "NM_001438377.1",
"protein_id": "NP_001425306.1",
"transcript_support_level": null,
"aa_start": 149,
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"aa_length": 560,
"cds_start": 445,
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"cdna_start": 608,
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},
{
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"strand": false,
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],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Arg131Gly",
"transcript": "NM_001438378.1",
"protein_id": "NP_001425307.1",
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},
{
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"strand": false,
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],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "AP4B1",
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"hgvs_c": "c.166C>G",
"hgvs_p": "p.Arg56Gly",
"transcript": "NM_001438379.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.52C>G",
"hgvs_p": "p.Arg18Gly",
"transcript": "XM_047439008.1",
"protein_id": "XP_047294964.1",
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"aa_start": 18,
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"cds_start": 52,
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"cdna_start": 122,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"transcript": "XM_047439052.1",
"protein_id": "XP_047295008.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 453,
"cds_start": 670,
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"cdna_start": 752,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
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}