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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: 12-42329106-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=42329106&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 42329106,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000358314.12",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "NM_201439.2",
"protein_id": "NP_958847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": "ENST00000358314.12",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000358314.12",
"protein_id": "ENSP00000351066.7",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": "NM_201439.2",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000395568.6",
"protein_id": "ENSP00000378935.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2170,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000432191.6",
"protein_id": "ENSP00000393965.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": -4,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3377,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-43+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000395580.7",
"protein_id": "ENSP00000378947.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 374,
"cds_start": -4,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000449194.6",
"protein_id": "ENSP00000390681.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": -4,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1583,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-43+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000552761.5",
"protein_id": "ENSP00000449331.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "n.52+2877T>G",
"hgvs_p": null,
"transcript": "ENST00000552202.5",
"protein_id": null,
"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": 1290,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "NM_001364827.2",
"protein_id": "NP_001351756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-21+2877T>G",
"hgvs_p": null,
"transcript": "NM_016488.7",
"protein_id": "NP_057572.5",
"transcript_support_level": null,
"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,
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"biotype": null,
"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": 14,
"intron_rank": 1,
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"gene_symbol": "PPHLN1",
"gene_hgnc_id": 19369,
"hgvs_c": "c.-64+2877T>G",
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"transcript": "ENST00000610488.4",
"protein_id": "ENSP00000479913.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "PPHLN1",
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},
{
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],
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.-21+2877T>G",
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"transcript": "NM_001143787.2",
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},
{
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],
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.-64+2877T>G",
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},
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],
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},
{
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],
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.-21+2877T>G",
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},
{
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],
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.35-6777T>G",
"hgvs_p": null,
"transcript": "ENST00000549190.5",
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],
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.-43+2877T>G",
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"transcript": "NM_001364822.2",
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},
{
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "PPHLN1",
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"hgvs_c": "c.-21+2877T>G",
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"transcript": "NM_001143788.2",
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}