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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: 22-38736299-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38736299&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38736299,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000689035.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_015374.3",
"protein_id": "NP_056189.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "ENST00000689035.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "ENST00000689035.1",
"protein_id": "ENSP00000508608.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": "NM_015374.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.Arg729Cys",
"transcript": "ENST00000405018.5",
"protein_id": "ENSP00000385616.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 738,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "ENST00000405510.5",
"protein_id": "ENSP00000385740.1",
"transcript_support_level": 1,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2215C>T",
"hgvs_p": "p.Arg739Cys",
"transcript": "NM_001394427.1",
"protein_id": "NP_001381356.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 748,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.Arg729Cys",
"transcript": "NM_001199579.2",
"protein_id": "NP_001186508.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 738,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2185C>T",
"hgvs_p": "p.Arg729Cys",
"transcript": "NM_001394428.1",
"protein_id": "NP_001381357.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 738,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723Cys",
"transcript": "NM_001394429.1",
"protein_id": "NP_001381358.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 4070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Arg723Cys",
"transcript": "NM_001394430.1",
"protein_id": "NP_001381359.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_001199580.2",
"protein_id": "NP_001186509.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_001394432.1",
"protein_id": "NP_001381361.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_001394433.1",
"protein_id": "NP_001381362.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_001394434.1",
"protein_id": "NP_001381363.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 4006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "NM_001394435.1",
"protein_id": "NP_001381364.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
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"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 4009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2122C>T",
"hgvs_p": "p.Arg708Cys",
"transcript": "ENST00000406622.5",
"protein_id": "ENSP00000383992.1",
"transcript_support_level": 2,
"aa_start": 708,
"aa_end": null,
"aa_length": 717,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Cys",
"transcript": "NM_001394436.1",
"protein_id": "NP_001381365.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 716,
"cds_start": 2119,
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"cdna_start": 2457,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2119C>T",
"hgvs_p": "p.Arg707Cys",
"transcript": "NM_001394437.1",
"protein_id": "NP_001381366.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 716,
"cds_start": 2119,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2032C>T",
"hgvs_p": "p.Arg678Cys",
"transcript": "NM_001394438.1",
"protein_id": "NP_001381367.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 687,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "NM_001394439.1",
"protein_id": "NP_001381368.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 671,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2257,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "NM_001394440.1",
"protein_id": "NP_001381369.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 671,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "NM_001394441.1",
"protein_id": "NP_001381370.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 671,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "ENST00000456894.6",
"protein_id": "ENSP00000415588.3",
"transcript_support_level": 5,
"aa_start": 662,
"aa_end": null,
"aa_length": 671,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}