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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: 7-96695187-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=96695187&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 96695187,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001393898.1",
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_006304.2",
"protein_id": "NP_006295.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248566.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006304.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000248566.4",
"protein_id": "ENSP00000248566.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 70,
"cds_start": null,
"cds_end": null,
"cds_length": 213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006304.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248566.4"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000413065.5",
"protein_id": "ENSP00000409481.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413065.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393898.1",
"protein_id": "NP_001380827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393898.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393899.1",
"protein_id": "NP_001380828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393899.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000623693.3",
"protein_id": "ENSP00000485353.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623693.3"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393900.1",
"protein_id": "NP_001380829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 89,
"cds_start": null,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393900.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000927686.1",
"protein_id": "ENSP00000597745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927686.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393901.1",
"protein_id": "NP_001380830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393901.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393902.1",
"protein_id": "NP_001380831.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393902.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000417009.5",
"protein_id": "ENSP00000416322.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417009.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-311C>T",
"hgvs_p": null,
"transcript": "ENST00000927687.1",
"protein_id": "ENSP00000597746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 65,
"cds_start": null,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927687.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000444799.5",
"protein_id": "ENSP00000390049.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444799.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "NM_001393903.1",
"protein_id": "NP_001380832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393903.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000623498.3",
"protein_id": "ENSP00000485341.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623498.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.76+14501C>T",
"hgvs_p": null,
"transcript": "NM_001393904.1",
"protein_id": "NP_001380833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393904.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.32-296C>T",
"hgvs_p": null,
"transcript": "ENST00000927688.1",
"protein_id": "ENSP00000597747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927688.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.76+14501C>T",
"hgvs_p": null,
"transcript": "NM_001393905.1",
"protein_id": "NP_001380834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 35,
"cds_start": null,
"cds_end": null,
"cds_length": 108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393905.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.76+14501C>T",
"hgvs_p": null,
"transcript": "ENST00000488005.5",
"protein_id": "ENSP00000478651.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488005.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "c.77-6221C>T",
"hgvs_p": null,
"transcript": "NM_001393906.1",
"protein_id": "NP_001380835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": null,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "n.2186C>T",
"hgvs_p": null,
"transcript": "ENST00000482389.1",
"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": "ENST00000482389.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
"hgvs_c": "n.77-296C>T",
"hgvs_p": null,
"transcript": "ENST00000449279.5",
"protein_id": "ENSP00000392852.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000449279.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEM1",
"gene_hgnc_id": 10845,
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