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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: 8-93755751-C-CTTTTTTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93755751&ref=C&alt=CTTTTTTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93755751,
"ref": "C",
"alt": "CTTTTTTTTT",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_153704.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-11_224-3dupTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_153704.6",
"protein_id": "NP_714915.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": null,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000453321.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153704.6"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000453321.8",
"protein_id": "ENSP00000389998.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 995,
"cds_start": null,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153704.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453321.8"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000452276.6",
"protein_id": "ENSP00000388671.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": null,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452276.6"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.244-27_244-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000474944.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474944.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.227-27_227-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000481620.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000481620.1"
},
{
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000520680.2",
"protein_id": "ENSP00000428785.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1036,
"cds_start": null,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520680.2"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000409623.8",
"protein_id": "ENSP00000386966.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": null,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409623.8"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000521517.6",
"protein_id": "ENSP00000430740.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": null,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521517.6"
},
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.-62+630_-62+638dupTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001142301.1",
"protein_id": "NP_001135773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": null,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142301.1"
},
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.-86-27_-86-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000684064.1",
"protein_id": "ENSP00000508192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": null,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684064.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000683362.1",
"protein_id": "ENSP00000506985.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 882,
"cds_start": null,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683362.1"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000682036.1",
"protein_id": "ENSP00000508390.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682036.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000453906.6",
"protein_id": "ENSP00000403035.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
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"cds_length": 2106,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453906.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.-292-27_-292-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000518319.5",
"protein_id": "ENSP00000430289.1",
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"aa_start": null,
"aa_end": 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": "ENST00000518319.5"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.-299-27_-299-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000498673.5",
"protein_id": "ENSP00000430232.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 5,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498673.5"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.9+630_9+638dupTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_006716686.5",
"protein_id": "XP_006716749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716686.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.224-11_224-3dupTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_011517363.4",
"protein_id": "XP_011515665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
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"cds_length": 2106,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517363.4"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "c.9+630_9+638dupTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047422410.1",
"protein_id": "XP_047278366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"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": "XM_047422410.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000323130.8",
"protein_id": "ENSP00000314488.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000323130.8"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000455946.5",
"protein_id": "ENSP00000416339.1",
"transcript_support_level": 5,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000455946.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.233-27_233-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000475305.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475305.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM67",
"gene_hgnc_id": 28396,
"hgvs_c": "n.224-27_224-26insTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000521065.2",
"protein_id": "ENSP00000427947.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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}
],
"message": null
}