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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: 3-138263876-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=138263876&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 138263876,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000469044.6",
"consequences": [
{
"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": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1217+55T>A",
"hgvs_p": null,
"transcript": "NM_001363941.2",
"protein_id": "NP_001350870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": "ENST00000469044.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1217+55T>A",
"hgvs_p": null,
"transcript": "ENST00000469044.6",
"protein_id": "ENSP00000419413.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": "NM_001363941.2",
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1175+55T>A",
"hgvs_p": null,
"transcript": "ENST00000481646.5",
"protein_id": "ENSP00000420333.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3043,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "NME9",
"gene_hgnc_id": 21343,
"hgvs_c": "n.*66-1290A>T",
"hgvs_p": null,
"transcript": "ENST00000492993.5",
"protein_id": "ENSP00000419355.1",
"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": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "n.366T>A",
"hgvs_p": null,
"transcript": "ENST00000466762.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3906,
"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": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1175+55T>A",
"hgvs_p": null,
"transcript": "NM_015396.6",
"protein_id": "NP_056211.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": -4,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4603,
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1124+55T>A",
"hgvs_p": null,
"transcript": "NM_001267041.2",
"protein_id": "NP_001253970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4733,
"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": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1124+55T>A",
"hgvs_p": null,
"transcript": "ENST00000538260.5",
"protein_id": "ENSP00000441592.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4728,
"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": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1091+55T>A",
"hgvs_p": null,
"transcript": "NM_001363942.1",
"protein_id": "NP_001350871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1091+55T>A",
"hgvs_p": null,
"transcript": "ENST00000491704.5",
"protein_id": "ENSP00000417304.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
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"cds_length": 1896,
"cdna_start": null,
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"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1016+55T>A",
"hgvs_p": null,
"transcript": "NM_001267042.3",
"protein_id": "NP_001253971.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 12,
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"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1016+55T>A",
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"transcript": "ENST00000461822.5",
"protein_id": "ENSP00000420706.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 11,
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"gene_symbol": "ARMC8",
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"hgvs_c": "c.998+55T>A",
"hgvs_p": null,
"transcript": "NM_001282342.2",
"protein_id": "NP_001269271.1",
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},
{
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"strand": true,
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],
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"intron_rank": 11,
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"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.998+55T>A",
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"transcript": "ENST00000485396.5",
"protein_id": "ENSP00000417049.1",
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},
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],
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"gene_symbol": "ARMC8",
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"hgvs_c": "c.899+55T>A",
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"transcript": "ENST00000463485.5",
"protein_id": "ENSP00000417403.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NME9",
"gene_hgnc_id": 21343,
"hgvs_c": "c.746-1290A>T",
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"transcript": "NM_178130.4",
"protein_id": "NP_835231.1",
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},
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],
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"intron_rank": 8,
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"gene_symbol": "NME9",
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"hgvs_c": "c.746-1290A>T",
"hgvs_p": null,
"transcript": "ENST00000317876.8",
"protein_id": "ENSP00000321929.4",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NME9",
"gene_hgnc_id": 21343,
"hgvs_c": "c.746-1290A>T",
"hgvs_p": null,
"transcript": "ENST00000383180.6",
"protein_id": "ENSP00000372667.2",
"transcript_support_level": 2,
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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": 9,
"intron_rank": 8,
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"gene_symbol": "NME9",
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"hgvs_c": "c.740-1290A>T",
"hgvs_p": null,
"transcript": "NM_001349021.2",
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},
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],
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"gene_symbol": "NME9",
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"hgvs_c": "c.740-1290A>T",
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"transcript": "ENST00000484930.5",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "ARMC8",
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"hgvs_c": "n.735+55T>A",
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"transcript": "ENST00000460495.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1175+55T>A",
"hgvs_p": null,
"transcript": "XM_006713565.3",
"protein_id": "XP_006713628.1",
"transcript_support_level": null,
"aa_start": 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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC8",
"gene_hgnc_id": 24999,
"hgvs_c": "c.1091+55T>A",
"hgvs_p": null,
"transcript": "XM_006713566.5",
"protein_id": "XP_006713629.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
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{
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
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}
],
"message": null
}