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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: 11-67497208-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67497208&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67497208,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_004910.3",
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "NM_004910.3",
"protein_id": "NP_004901.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356404.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004910.3"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000356404.8",
"protein_id": "ENSP00000348772.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004910.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356404.8"
},
{
"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": 23,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000534749.5",
"protein_id": "ENSP00000437286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534749.5"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000436757.7",
"protein_id": "ENSP00000398787.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436757.7"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000897588.1",
"protein_id": "ENSP00000567647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897588.1"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000932948.1",
"protein_id": "ENSP00000603007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932948.1"
},
{
"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": 25,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000950487.1",
"protein_id": "ENSP00000620546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": null,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950487.1"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "NM_001130848.2",
"protein_id": "NP_001124320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130848.2"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>T",
"hgvs_p": null,
"transcript": "ENST00000897590.1",
"protein_id": "ENSP00000567649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897590.1"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000950489.1",
"protein_id": "ENSP00000620548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950489.1"
},
{
"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": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>T",
"hgvs_p": null,
"transcript": "ENST00000897589.1",
"protein_id": "ENSP00000567648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1242,
"cds_start": null,
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"cds_length": 3729,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000897589.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "ENST00000932949.1",
"protein_id": "ENSP00000603008.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000932949.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2122+23G>T",
"hgvs_p": null,
"transcript": "ENST00000950488.1",
"protein_id": "ENSP00000620547.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950488.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
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"transcript": "XM_017018586.2",
"protein_id": "XP_016874075.1",
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"biotype": "protein_coding",
"feature": "XM_017018586.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "XM_047427905.1",
"protein_id": "XP_047283861.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "XM_047427905.1"
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PITPNM1",
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"hgvs_c": "c.2146+23G>T",
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"transcript": "XM_047427906.1",
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"biotype": "protein_coding",
"feature": "XM_047427906.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "XM_047427907.1",
"protein_id": "XP_047283863.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047427907.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>T",
"hgvs_p": null,
"transcript": "XM_011545396.4",
"protein_id": "XP_011543698.1",
"transcript_support_level": null,
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},
{
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],
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"intron_rank": 14,
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"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
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},
{
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],
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"gene_symbol": "PITPNM1",
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"hgvs_c": "c.2146+23G>T",
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"protein_id": "XP_047283865.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2146+23G>T",
"hgvs_p": null,
"transcript": "XM_047427910.1",
"protein_id": "XP_047283866.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047427910.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PITPNM1",
"gene_hgnc_id": 9003,
"hgvs_c": "c.2143+23G>T",
"hgvs_p": null,
"transcript": "XM_047427911.1",
"protein_id": "XP_047283867.1",
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047427911.1"
},
{
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}
],
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}