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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: 1-161167208-GC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161167208&ref=GC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161167208,
"ref": "GC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000309.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122764.3"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367999.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352210.9"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881040.1",
"protein_id": "ENSP00000551099.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 544,
"cds_start": 199,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881040.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881038.1",
"protein_id": "ENSP00000551097.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 478,
"cds_start": 199,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881038.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881039.1",
"protein_id": "ENSP00000551098.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 478,
"cds_start": 199,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881039.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000309.5"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365398.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881045.1",
"protein_id": "ENSP00000551104.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 293,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881045.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881046.1",
"protein_id": "ENSP00000551105.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881046.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000971241.1",
"protein_id": "ENSP00000641300.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 477,
"cds_start": 199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971241.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000971244.1",
"protein_id": "ENSP00000641303.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 471,
"cds_start": 199,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971244.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000971249.1",
"protein_id": "ENSP00000641308.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 471,
"cds_start": 199,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971249.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000923443.1",
"protein_id": "ENSP00000593502.1",
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"aa_start": 67,
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"aa_length": 457,
"cds_start": 199,
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"cdna_start": 460,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000923443.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881043.1",
"protein_id": "ENSP00000551102.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 450,
"cds_start": 199,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881043.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000971245.1",
"protein_id": "ENSP00000641304.1",
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"aa_start": 67,
"aa_end": null,
"aa_length": 450,
"cds_start": 199,
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"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971245.1"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 444,
"cds_start": 199,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350128.2"
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000923441.1",
"protein_id": "ENSP00000593500.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 442,
"cds_start": 199,
"cds_end": null,
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"cdna_start": 462,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000923441.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
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"cdna_start": 454,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365399.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881036.1",
"protein_id": "ENSP00000551095.1",
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"aa_start": 67,
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"cds_start": 199,
"cds_end": null,
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"cdna_start": 478,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000881036.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000881044.1",
"protein_id": "ENSP00000551103.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 439,
"cds_start": 199,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881044.1"
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.199delC",
"hgvs_p": "p.Leu67fs",
"transcript": "ENST00000923447.1",
"protein_id": "ENSP00000593506.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 437,
"cds_start": 199,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923447.1"
},
{
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"canonical": false,
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{
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],
"clinvar_disease": "Variegate porphyria,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Variegate porphyria|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}