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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: 1-43949418-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43949418&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43949418,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014652.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "NM_014652.4",
"protein_id": "NP_055467.3",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 963,
"cds_start": 86,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372343.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014652.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000372343.8",
"protein_id": "ENSP00000361418.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 963,
"cds_start": 86,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014652.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372343.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.104C>T",
"hgvs_p": "p.Ala35Val",
"transcript": "ENST00000862663.1",
"protein_id": "ENSP00000532722.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 969,
"cds_start": 104,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862663.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862671.1",
"protein_id": "ENSP00000532730.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 986,
"cds_start": 86,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862671.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862665.1",
"protein_id": "ENSP00000532724.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 968,
"cds_start": 86,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862665.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000924211.1",
"protein_id": "ENSP00000594270.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 954,
"cds_start": 86,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924211.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862672.1",
"protein_id": "ENSP00000532731.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 86,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862672.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862668.1",
"protein_id": "ENSP00000532727.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 938,
"cds_start": 86,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862668.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862667.1",
"protein_id": "ENSP00000532726.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 936,
"cds_start": 86,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862667.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862661.1",
"protein_id": "ENSP00000532720.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 933,
"cds_start": 86,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862661.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000924210.1",
"protein_id": "ENSP00000594269.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 931,
"cds_start": 86,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924210.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862669.1",
"protein_id": "ENSP00000532728.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 923,
"cds_start": 86,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862669.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000950460.1",
"protein_id": "ENSP00000620519.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 916,
"cds_start": 86,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950460.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862660.1",
"protein_id": "ENSP00000532719.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 915,
"cds_start": 86,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862660.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000924212.1",
"protein_id": "ENSP00000594271.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 913,
"cds_start": 86,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924212.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862670.1",
"protein_id": "ENSP00000532729.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 902,
"cds_start": 86,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862670.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000862664.1",
"protein_id": "ENSP00000532723.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 867,
"cds_start": 86,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862664.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val",
"transcript": "ENST00000950461.1",
"protein_id": "ENSP00000620520.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 840,
"cds_start": 86,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950461.1"
},
{
"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": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.85-74C>T",
"hgvs_p": null,
"transcript": "ENST00000862666.1",
"protein_id": "ENSP00000532725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862666.1"
},
{
"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": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.85-86C>T",
"hgvs_p": null,
"transcript": "ENST00000862662.1",
"protein_id": "ENSP00000532721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": null,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862662.1"
},
{
"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": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "c.-83+1734C>T",
"hgvs_p": null,
"transcript": "XM_024451069.2",
"protein_id": "XP_024306837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": null,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451069.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "n.177C>T",
"hgvs_p": null,
"transcript": "ENST00000489061.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000489061.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"hgvs_c": "n.116-668C>T",
"hgvs_p": null,
"transcript": "ENST00000489773.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000489773.5"
}
],
"gene_symbol": "IPO13",
"gene_hgnc_id": 16853,
"dbsnp": "rs781453528",
"frequency_reference_population": 0.00003192832,
"hom_count_reference_population": 0,
"allele_count_reference_population": 51,
"gnomad_exomes_af": 0.0000318302,
"gnomad_genomes_af": 0.0000328601,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7971868515014648,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7839999794960022,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.885,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.977230101093236,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014652.4",
"gene_symbol": "IPO13",
"hgnc_id": 16853,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.86C>T",
"hgvs_p": "p.Ala29Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}